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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| osteogenesis imperfecta | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18566967 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curated| 1. | OMIM Disease Annotation Pipeline |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
| 4. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 10455179 10951563 12477932 14702039 15044469 15489334 16303743 16396496 17277775 18566967 18996919 19056867 19088120 19615732 19846465 19862557 19946888 20000738 20089953 20360068 20946018 21145461 21150319 21667357 21873635 21942715 22268729 22281939 22615817 22863883 24043621 24550385 25921289 26186194 26344197 26496610 26634552 26638075 26687479 26972000 27383115 27880917 28065597 28327460 28380382 28431233 28514442 28712289 29676528 29777862 30021884 30389107 31048545 31073040 31091453 31536960 31586073 |
Comparative Map Data| P3H1 (Homo sapiens - human) |
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| P3h1 (Mus musculus - house mouse) |
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| P3h1 (Rattus norvegicus - Norway rat) |
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| P3h1 (Chinchilla lanigera - long-tailed chinchilla) |
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| P3H1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| P3H1 (Canis lupus familiaris - dog) |
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| P3h1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| P3H1 (Sus scrofa - pig) |
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| P3H1 (Chlorocebus sabaeus - African green monkey) |
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| P3h1 (Heterocephalus glaber - naked mole-rat) |
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Position Markers| SHGC-74679 |
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| D1S1307 |
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| SHGC-2670 |
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| SHGC-106195 |
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| LEPRE1__6385.2 |
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| D1S3562 |
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| L17809 |
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| L17877 |
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| D8S2279 |
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| LEPRE1 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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RNA-SEQ Expression| alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
| High | ||||||||||||||||||
| Medium | 1989 | 1905 | 1584 | 476 | 1362 | 341 | 3452 | 1037 | 1636 | 254 | 1398 | 1544 | 147 | 1 | 1199 | 1957 | 4 | |
| Low | 450 | 1086 | 142 | 148 | 589 | 124 | 905 | 1160 | 2098 | 165 | 62 | 69 | 28 | 5 | 831 | 2 | 2 | |
| Below cutoff |
Nucleotide Sequences| RefSeq Transcripts | NG_008123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001146289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001243246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_022356 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005271110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011541948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017002051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017002052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_946739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC098484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF097431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF097432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK025841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK027648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK027680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK027697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK075418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK300210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC004160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC015309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC068461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC091513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC108311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC143961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC143962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BE675748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BT007039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR749690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CS051227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC404420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF495923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| R67284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000236040 ⟹ ENSP00000236040 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000296388 ⟹ ENSP00000296388 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000372526 ⟹ ENSP00000361604 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000397054 ⟹ ENSP00000380245 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000431412 ⟹ ENSP00000408056 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000447502 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000460031 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000460831 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000462474 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000463465 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000472802 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000481465 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000492956 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | ENST00000495874 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001146289 ⟹ NP_001139761 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
|
||||||||||||||||||||
| Sequence: |
ATGCGCCGCCCGGCTTGGAAGGTGGGGCTTCGCCCGGGGGCGGGCCTTCGCCGGGGGTAGGACThide sequence |
| RefSeq Acc Id: | NM_001243246 ⟹ NP_001230175 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
|
||||||||||||||||||||
| Sequence: |
ATGCGCCGCCCGGCTTGGAAGGTGGGGCTTCGCCCGGGGGCGGGCCTTCGCCGGGGGTAGGACThide sequence |
| RefSeq Acc Id: | NM_022356 ⟹ NP_071751 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||
| Sequence: |
ATGCGCCGCCCGGCTTGGAAGGTGGGGCTTCGCCCGGGGGCGGGCCTTCGCCGGGGGTAGGACThide sequence |
| RefSeq Acc Id: | XM_005271110 ⟹ XP_005271167 | ||||||||||||
| RefSeq Status: | |||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
||||||||||||
| Sequence: |
ATTACCAAACCATGTCTGGAGTGAAGGAGGCCGACTTCAAGGATCTTGAGACTCAACCCCATAThide sequence |
| RefSeq Acc Id: | XM_011541948 ⟹ XP_011540250 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
ATTACCAAACCATGTCTGGAGTGAAGGAGGCCGACTTCAAGGATCTTGAGACTCAACCCCATAThide sequence |
| RefSeq Acc Id: | XM_017002051 ⟹ XP_016857540 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GGACTCCGGCCTTGGTGGCGGGTGGCTGGCGGTTCCGTTAGGTCTGAGGGAGCGATGGCGGTAChide sequence |
| RefSeq Acc Id: | XM_017002052 ⟹ XP_016857541 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
CGTTAGGTCTGAGGGAGCGATGGCGGTACGCGCGTTGAAGCTGCTGACCACACTGCTGGCTGTChide sequence |
| RefSeq Acc Id: | XR_946739 | ||||||||
| RefSeq Status: | |||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
GTAGGACTCCGGCCTTGGTGGCGGGTGGCTGGCGGTTCCGTTAGGTCTGAGGGAGCGATGGCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001139761 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001230175 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_071751 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005271167 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011540250 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016857540 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016857541 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAG31018 | (Get FASTA) | NCBI Sequence Viewer |
| AAG31019 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH15309 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI08312 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP35688 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB15256 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB55264 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB55291 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB55305 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC11608 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG60290 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG61980 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH18474 | (Get FASTA) | NCBI Sequence Viewer | |
| CAI72109 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX07142 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX07143 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX07144 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX07145 | (Get FASTA) | NCBI Sequence Viewer | |
| Q32P28 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_071751 ⟸ NM_022356 |
| - Peptide Label: | isoform 1 precursor |
| - UniProtKB: | Q32P28 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRShide sequence |
| RefSeq Acc Id: | NP_001139761 ⟸ NM_001146289 |
| - Peptide Label: | isoform 2 precursor |
| - UniProtKB: | Q32P28 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRShide sequence |
| RefSeq Acc Id: | NP_001230175 ⟸ NM_001243246 |
| - Peptide Label: | isoform 3 precursor |
| - UniProtKB: | Q32P28 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRShide sequence |
| RefSeq Acc Id: | XP_005271167 ⟸ XM_005271110 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MNQNLAYYAAMLGEEHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPhide sequence |
| RefSeq Acc Id: | XP_011540250 ⟸ XM_011541948 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MQLCLEKNTPDPSAPVSRAPRERCDPGKYSVSLPWSAKEYRQRSLLEKELLFFAYDVFGIPFVDhide sequence |
| RefSeq Acc Id: | XP_016857541 ⟸ XM_017002052 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MQLCLEKNTPDPSAPVRAPRERCDPGKYSVSLPWSAKEYRQRSLLEKELLFFAYDVFGIPFVDPhide sequence |
| RefSeq Acc Id: | XP_016857540 ⟸ XM_017002051 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MQLCLEKNTPDPSAPVSRAPRERCDPGKYSVSLPWSAKEYRQRSLLEKELLFFAYDVFGIPFVDhide sequence |
| RefSeq Acc Id: | ENSP00000361604 ⟸ ENST00000372526 |
| RefSeq Acc Id: | ENSP00000296388 ⟸ ENST00000296388 |
| RefSeq Acc Id: | ENSP00000408056 ⟸ ENST00000431412 |
| RefSeq Acc Id: | ENSP00000236040 ⟸ ENST00000236040 |
| RefSeq Acc Id: | ENSP00000380245 ⟸ ENST00000397054 |
Promoters| RGD ID: | 6855192 | ||||||||
| Promoter ID: | EPDNEW_H761 | ||||||||
| Type: | initiation region | ||||||||
| Name: | P3H1_1 | ||||||||
| Description: | prolyl 3-hydroxylase 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| RGD ID: | 6785922 | ||||||||
| Promoter ID: | HG_KWN:2300 | ||||||||
| Type: | Non-CpG | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | K562 | ||||||||
| Transcripts: | OTTHUMT00000019995, OTTHUMT00000019996, OTTHUMT00000097217 | ||||||||
| Position: |
|
| RGD ID: | 6784970 | ||||||||
| Promoter ID: | HG_KWN:2305 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, K562, Lymphoblastoid, NB4 | ||||||||
| Transcripts: | ENST00000372526, ENST00000397054, UC001CHZ.1 | ||||||||
| Position: |
|
| RGD ID: | 6785925 | ||||||||
| Promoter ID: | HG_KWN:2306 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
| Transcripts: | NM_001146289, NM_022356, NM_024097, OTTHUMT00000019994, OTTHUMT00000020002, OTTHUMT00000020004, OTTHUMT00000329581, UC001CHX.2, UC001CHY.2 | ||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_022356.3(P3H1):c.978C>T (p.Thr326=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001096106]|Osteogenesis imperfecta type 8 [RCV001000260]|not specified [RCV000610741] | Chr1:42757885 [GRCh38] Chr1:43223556 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.2076C>G (p.Asp692Glu) | single nucleotide variant | not provided [RCV000523829] | Chr1:42746832 [GRCh38] Chr1:43212503 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1080+1G>T | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000001315]|not provided [RCV000255762] | Chr1:42757782 [GRCh38] Chr1:43223453 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1473+1G>T | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000001316] | Chr1:42752536 [GRCh38] Chr1:43218207 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.747del (p.Tyr250fs) | deletion | Osteogenesis imperfecta type 8 [RCV000001317] | Chr1:42759262 [GRCh38] Chr1:43224933 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000001318] | Chr1:42750250 [GRCh38] Chr1:43215921 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs) | indel | Osteogenesis imperfecta type 8 [RCV000001319] | Chr1:42752644..42752645 [GRCh38] Chr1:43218315..43218316 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000001320]|not provided [RCV000224137] | Chr1:42755616 [GRCh38] Chr1:43221287 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.2055+18G>A | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000001321] | Chr1:42747254 [GRCh38] Chr1:43212925 [GRCh37] Chr1:1p34.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_022356.3(P3H1):c.874C>T (p.Arg292Ter) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV000778236] | Chr1:42758918 [GRCh38] Chr1:43224589 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1243G>A (p.Val415Ile) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000812899]|not provided [RCV000520776] | Chr1:42754971 [GRCh38] Chr1:43220642 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1290C>G (p.Thr430=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000543682] | Chr1:42754924 [GRCh38] Chr1:43220595 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.326T>G (p.Phe109Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000549846] | Chr1:42766646 [GRCh38] Chr1:43232317 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099454]|Osteogenesis imperfecta type 8 [RCV000547688] | Chr1:42747397 [GRCh38] Chr1:43213068 [GRCh37] Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_022356.3(P3H1):c.1838+8C>T | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000544654] | Chr1:42748192 [GRCh38] Chr1:43213863 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1838+5G>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099456]|Osteogenesis imperfecta type 8 [RCV000529775] | Chr1:42748195 [GRCh38] Chr1:43213866 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 | copy number loss | See cases [RCV000050706] | Chr1:40693289..44514104 [GRCh38] Chr1:41158961..44979776 [GRCh37] Chr1:40931548..44752363 [NCBI36] Chr1:1p34.2-34.1 |
pathogenic |
| GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] | Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33 |
pathogenic |
| GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 | copy number gain | See cases [RCV000051803] | Chr1:38222737..45636176 [GRCh38] Chr1:38688409..46101848 [GRCh37] Chr1:38460996..45874435 [NCBI36] Chr1:1p34.3-34.1 |
pathogenic |
| GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 | copy number loss | See cases [RCV000053837] | Chr1:40462415..44668040 [GRCh38] Chr1:40928087..45133712 [GRCh37] Chr1:40700674..44906299 [NCBI36] Chr1:1p34.2-34.1 |
pathogenic |
| NM_022356.3(P3H1):c.462C>G (p.Phe154Leu) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000661932] | Chr1:42766510 [GRCh38] Chr1:43232181 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1170+9G>A | single nucleotide variant | not provided [RCV000171152] | Chr1:42755539 [GRCh38] Chr1:43221210 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.3(P3H1):c.2152C>G (p.Pro718Ala) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097676]|Osteogenesis imperfecta type 8 [RCV001078667]|not provided [RCV000724099]|not specified [RCV000174946] | Chr1:42746756 [GRCh38] Chr1:43212427 [GRCh37] Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001146289.1(P3H1):c.*73= | single nucleotide variant | not specified [RCV000174947] | Chr1:42746760 [GRCh38] Chr1:43212431 [GRCh37] Chr1:1p34.2 |
likely benign |
| GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1 | copy number loss | See cases [RCV000141339] | Chr1:42653385..43093829 [GRCh38] Chr1:43119056..43559500 [GRCh37] Chr1:42891643..43332087 [NCBI36] Chr1:1p34.2 |
likely pathogenic |
| GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 | copy number loss | See cases [RCV000142267] | Chr1:40834404..43123071 [GRCh38] Chr1:41300076..43588742 [GRCh37] Chr1:41072663..43361329 [NCBI36] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.392C>A (p.Ser131Ter) | single nucleotide variant | not provided [RCV000254851] | Chr1:42766580 [GRCh38] Chr1:43232251 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.852G>A (p.Thr284=) | single nucleotide variant | not provided [RCV000178336] | Chr1:42758940 [GRCh38] Chr1:43224611 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.756C>T (p.Tyr252=) | single nucleotide variant | not provided [RCV000177330] | Chr1:42759253 [GRCh38] Chr1:43224924 [GRCh37] Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.1569+1G>A | single nucleotide variant | not provided [RCV000395246] | Chr1:42752273 [GRCh38] Chr1:43217944 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1720+4G>A | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101451]|Osteogenesis imperfecta type 8 [RCV000542489]|not specified [RCV000607786] | Chr1:42750182 [GRCh38] Chr1:43215853 [GRCh37] Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_022356.3(P3H1):c.1120G>T (p.Glu374Ter) | single nucleotide variant | not provided [RCV000369412] | Chr1:42755598 [GRCh38] Chr1:43221269 [GRCh37] Chr1:1p34.2 |
pathogenic |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
| GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 | copy number loss | See cases [RCV000446029] | Chr1:42914303..45001279 [GRCh37] Chr1:1p34.2-34.1 |
pathogenic |
| NM_022356.3(P3H1):c.961G>A (p.Val321Ile) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000546511] | Chr1:42757902 [GRCh38] Chr1:43223573 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.426G>T (p.Lys142Asn) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000525418] | Chr1:42766546 [GRCh38] Chr1:43232217 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1721-4C>T | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001084404]|not provided [RCV000345547] | Chr1:42748321 [GRCh38] Chr1:43213992 [GRCh37] Chr1:1p34.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.1529A>G (p.Asn510Ser) | single nucleotide variant | not provided [RCV000756458]|not specified [RCV000381836] | Chr1:42752314 [GRCh38] Chr1:43217985 [GRCh37] Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.1071C>T (p.Gly357=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000878543]|not specified [RCV000385313] | Chr1:42757792 [GRCh38] Chr1:43223463 [GRCh37] Chr1:1p34.2 |
benign|likely benign |
| NM_022356.3(P3H1):c.2164C>A (p.Gln722Lys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000810347]|not provided [RCV000354246] | Chr1:42746744 [GRCh38] Chr1:43212415 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1346-1G>C | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001036322]|not provided [RCV000360614] | Chr1:42752665 [GRCh38] Chr1:43218336 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1221G>A (p.Gln407=) | single nucleotide variant | not provided [RCV000359884] | Chr1:42755167 [GRCh38] Chr1:43220838 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.689C>T (p.Ala230Val) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000553678]|not provided [RCV000400128] | Chr1:42759320 [GRCh38] Chr1:43224991 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001079324]|not provided [RCV000487953]|not specified [RCV000402019] | Chr1:42754892 [GRCh38] Chr1:43220563 [GRCh37] Chr1:1p34.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.1068C>T (p.Ile356=) | single nucleotide variant | not provided [RCV000269043] | Chr1:42757795 [GRCh38] Chr1:43223466 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097772]|Osteogenesis imperfecta type 8 [RCV000538652]|not provided [RCV000489750] | Chr1:42752339 [GRCh38] Chr1:43218010 [GRCh37] Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.327C>T (p.Phe109=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097862]|Osteogenesis imperfecta type 8 [RCV000876592]|not specified [RCV000597753] | Chr1:42766645 [GRCh38] Chr1:43232316 [GRCh37] Chr1:1p34.2 |
benign|likely benign|uncertain significance |
| NM_022356.4(P3H1):c.-57G>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099663]|Osteogenesis imperfecta type 8 [RCV001099664] | Chr1:42767028 [GRCh38] Chr1:43232699 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.1461G>A (p.Gln487=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000549946] | Chr1:42752549 [GRCh38] Chr1:43218220 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_001243246.1(P3H1):c.2049_2067CGAGCGGGTGAGAGCAGCT[3] (p.Trp696delinsSerSerGlyTer) | microsatellite | not specified [RCV000599477] | Chr1:42747240..42747241 [GRCh38] Chr1:43212911..43212912 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1660C>T (p.Arg554Cys) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101453]|Osteogenesis imperfecta type 8 [RCV000552053] | Chr1:42750246 [GRCh38] Chr1:43215917 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.646_650del (p.Tyr216fs) | deletion | Osteogenesis imperfecta type 8 [RCV000625827] | Chr1:42759359..42759363 [GRCh38] Chr1:43225030..43225034 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.611C>A (p.Pro204His) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001096112]|Osteogenesis imperfecta type 8 [RCV000999909]|not specified [RCV000610522] | Chr1:42762330 [GRCh38] Chr1:43228001 [GRCh37] Chr1:1p34.2 |
benign|likely benign|uncertain significance |
| NM_022356.4(P3H1):c.1944C>T (p.Ala648=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001099453] | Chr1:42747383 [GRCh38] Chr1:43213054 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1838+9G>A | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000559453] | Chr1:42748191 [GRCh38] Chr1:43213862 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1523C>G (p.Thr508Ser) | single nucleotide variant | not provided [RCV000733023] | Chr1:42752320 [GRCh38] Chr1:43217991 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.645C>T (p.Leu215=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000538758] | Chr1:42759364 [GRCh38] Chr1:43225035 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1830C>T (p.Arg610=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000560405] | Chr1:42748208 [GRCh38] Chr1:43213879 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.566T>C (p.Met189Thr) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000540273] | Chr1:42762375 [GRCh38] Chr1:43228046 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1792C>T (p.Leu598Phe) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001220055]|not provided [RCV000594621] | Chr1:42748246 [GRCh38] Chr1:43213917 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.210C>T (p.Ala70=) | single nucleotide variant | not provided [RCV000557974] | Chr1:42766762 [GRCh38] Chr1:43232433 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV000412937] | Chr1:42766971 [GRCh38] Chr1:43232642 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.3(P3H1):c.1915-20T>G | single nucleotide variant | not specified [RCV000427398] | Chr1:42747432 [GRCh38] Chr1:43213103 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.1647G>A (p.Met549Ile) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095987]|Osteogenesis imperfecta type 8 [RCV001095988]|not specified [RCV000441888] | Chr1:42750259 [GRCh38] Chr1:43215930 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.1233G>A (p.Arg411=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099569]|Osteogenesis imperfecta type 8 [RCV000543025]|not specified [RCV000424568] | Chr1:42754981 [GRCh38] Chr1:43220652 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.619-5A>C | single nucleotide variant | not specified [RCV000438511] | Chr1:42759395 [GRCh38] Chr1:43225066 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1812C>T (p.Pro604=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099457]|Osteogenesis imperfecta type 8 [RCV001001467]|not specified [RCV000442874] | Chr1:42748226 [GRCh38] Chr1:43213897 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.139G>T (p.Ala47Ser) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097863]|Osteogenesis imperfecta type 8 [RCV000551291]|not specified [RCV000432456] | Chr1:42766833 [GRCh38] Chr1:43232504 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.1045G>A (p.Gly349Arg) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101548]|Osteogenesis imperfecta type 8 [RCV000532565]|not specified [RCV000443398] | Chr1:42757818 [GRCh38] Chr1:43223489 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.2055+17C>T | single nucleotide variant | not specified [RCV000425880] | Chr1:42747255 [GRCh38] Chr1:43212926 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.1026C>T (p.Ala342=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101549]|Osteogenesis imperfecta type 8 [RCV001001470]|not specified [RCV000440114] | Chr1:42757837 [GRCh38] Chr1:43223508 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.1284C>T (p.Ile428=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099567]|Osteogenesis imperfecta type 8 [RCV001001469]|not specified [RCV000422896] | Chr1:42754930 [GRCh38] Chr1:43220601 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.1716C>T (p.Ile572=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001000482]|not specified [RCV000430034] | Chr1:42750190 [GRCh38] Chr1:43215861 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.2115C>T (p.Leu705=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000550725]|not specified [RCV000423163] | Chr1:42746793 [GRCh38] Chr1:43212464 [GRCh37] Chr1:1p34.2 |
benign|likely benign |
| NM_022356.3(P3H1):c.-45C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099662]|not specified [RCV000423335] | Chr1:42767016 [GRCh38] Chr1:43232687 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.1473+5G>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097774]|Osteogenesis imperfecta type 8 [RCV001087130]|not provided [RCV000766765]|not specified [RCV000423443] | Chr1:42752532 [GRCh38] Chr1:43218203 [GRCh37] Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.1569+3A>G | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095992]|Osteogenesis imperfecta type 8 [RCV001001468]|not specified [RCV000433949] | Chr1:42752271 [GRCh38] Chr1:43217942 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.3(P3H1):c.*4_*10del | deletion | not specified [RCV000486005] | Chr1:42746687..42746693 [GRCh38] Chr1:43212358..43212364 [GRCh37] Chr1:1p34.2 |
likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| NM_022356.3(P3H1):c.940+90A>G | single nucleotide variant | not specified [RCV000508352] | Chr1:42758762 [GRCh38] Chr1:43224433 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.2055+70G>T | single nucleotide variant | not specified [RCV000508457] | Chr1:42747202 [GRCh38] Chr1:43212873 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.2055+13C>G | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097679]|Osteogenesis imperfecta type 8 [RCV001099451]|not specified [RCV000506742] | Chr1:42747259 [GRCh38] Chr1:43212930 [GRCh37] Chr1:1p34.2 |
benign|likely benign |
| NM_022356.3(P3H1):c.2055+193G>A | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000506868] | Chr1:42747079 [GRCh38] Chr1:43212750 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.808+9A>T | single nucleotide variant | not specified [RCV000507276] | Chr1:42759192 [GRCh38] Chr1:43224863 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1806A>C (p.Lys602Asn) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101450]|Osteogenesis imperfecta type 8 [RCV000531278]|not provided [RCV000492957] | Chr1:42748232 [GRCh38] Chr1:43213903 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1231C>T (p.Arg411Trp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000812455]|not specified [RCV000507847] | Chr1:42754983 [GRCh38] Chr1:43220654 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_001146289.1(P3H1):c.570_571del (p.Gly191fs) | deletion | Osteogenesis imperfecta type 8 [RCV000625576] | Chr1:42762370..42762371 [GRCh38] Chr1:43228041..43228042 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1761C>T (p.His587=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000552838]|not specified [RCV000609765] | Chr1:42748277 [GRCh38] Chr1:43213948 [GRCh37] Chr1:1p34.2 |
likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| NM_022356.3(P3H1):c.1626G>A (p.Thr542=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095990]|Osteogenesis imperfecta type 8 [RCV000541733] | Chr1:42750280 [GRCh38] Chr1:43215951 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.4(P3H1):c.618+10del | deletion | Osteogenesis imperfecta type 8 [RCV000533580] | Chr1:42762313 [GRCh38] Chr1:43227984 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1411C>T (p.Arg471Trp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645484] | Chr1:42752599 [GRCh38] Chr1:43218270 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1579G>A (p.Glu527Lys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645485] | Chr1:42750327 [GRCh38] Chr1:43215998 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1208T>C (p.Leu403Ser) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645489] | Chr1:42755180 [GRCh38] Chr1:43220851 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1620C>T (p.Asn540=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095991]|Osteogenesis imperfecta type 8 [RCV000645492] | Chr1:42750286 [GRCh38] Chr1:43215957 [GRCh37] Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_022356.3(P3H1):c.1326G>A (p.Val442=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645493] | Chr1:42754888 [GRCh38] Chr1:43220559 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1501C>T (p.Arg501Trp) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097773]|Osteogenesis imperfecta type 8 [RCV000645494] | Chr1:42752342 [GRCh38] Chr1:43218013 [GRCh37] Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_022356.3(P3H1):c.1269C>T (p.Asn423=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645497] | Chr1:42754945 [GRCh38] Chr1:43220616 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1910T>A (p.Val637Glu) | single nucleotide variant | not provided [RCV000595682] | Chr1:42747727 [GRCh38] Chr1:43213398 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1246C>T (p.Arg416Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000557719] | Chr1:42754968 [GRCh38] Chr1:43220639 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1339C>T (p.Arg447Trp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000536974] | Chr1:42754875 [GRCh38] Chr1:43220546 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1412G>T (p.Arg471Leu) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000557159] | Chr1:42752598 [GRCh38] Chr1:43218269 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.693G>A (p.Ala231=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001096110]|Osteogenesis imperfecta type 8 [RCV000532202]|not specified [RCV000605499] | Chr1:42759316 [GRCh38] Chr1:43224987 [GRCh37] Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_022356.3(P3H1):c.1840G>T (p.Ala614Ser) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000537345] | Chr1:42747797 [GRCh38] Chr1:43213468 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.420C>T (p.Phe140=) | single nucleotide variant | not specified [RCV000610332] | Chr1:42766552 [GRCh38] Chr1:43232223 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1428C>T (p.Gly476=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097776]|Osteogenesis imperfecta type 8 [RCV000535611] | Chr1:42752582 [GRCh38] Chr1:43218253 [GRCh37] Chr1:1p34.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_022356.3(P3H1):c.1425C>T (p.Asp475=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000950905]|not specified [RCV000611521] | Chr1:42752585 [GRCh38] Chr1:43218256 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.2147G>C (p.Gly716Ala) | single nucleotide variant | not provided [RCV000524616] | Chr1:42746761 [GRCh38] Chr1:43212432 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1412G>A (p.Arg471Gln) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645483] | Chr1:42752598 [GRCh38] Chr1:43218269 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.2155G>A (p.Glu719Lys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645486] | Chr1:42746753 [GRCh38] Chr1:43212424 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1645A>G (p.Met549Val) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645487] | Chr1:42750261 [GRCh38] Chr1:43215932 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1616A>G (p.Tyr539Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645488] | Chr1:42750290 [GRCh38] Chr1:43215961 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.830A>G (p.Asn277Ser) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645490] | Chr1:42758962 [GRCh38] Chr1:43224633 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.2032C>A (p.Leu678Met) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645491] | Chr1:42747295 [GRCh38] Chr1:43212966 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1482A>G (p.Ala494=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000645495] | Chr1:42752361 [GRCh38] Chr1:43218032 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.81G>C (p.Glu27Asp) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097864]|Osteogenesis imperfecta type 8 [RCV000645496] | Chr1:42766891 [GRCh38] Chr1:43232562 [GRCh37] Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_022356.3(P3H1):c.2042G>A (p.Arg681Gln) | single nucleotide variant | not provided [RCV000658385] | Chr1:42747285 [GRCh38] Chr1:43212956 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.2104G>A (p.Glu702Lys) | single nucleotide variant | not provided [RCV000658307] | Chr1:42746804 [GRCh38] Chr1:43212475 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000686866] | Chr1:42755166 [GRCh38] Chr1:43220837 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1640G>A (p.Arg547His) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000694589] | Chr1:42750266 [GRCh38] Chr1:43215937 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1618_1620del (p.Asn540del) | deletion | Osteogenesis imperfecta type 8 [RCV000707126] | Chr1:42750286..42750288 [GRCh38] Chr1:43215957..43215959 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.811C>T (p.His271Tyr) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000694841] | Chr1:42758981 [GRCh38] Chr1:43224652 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1828C>T (p.Arg610Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000702061] | Chr1:42748210 [GRCh38] Chr1:43213881 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1141G>C (p.Asp381His) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000707393] | Chr1:42755577 [GRCh38] Chr1:43221248 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.331G>C (p.Gly111Arg) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000705100] | Chr1:42766641 [GRCh38] Chr1:43232312 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1102C>G (p.Arg368Gly) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000684875] | Chr1:42755616 [GRCh38] Chr1:43221287 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1171-2A>T | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000692569] | Chr1:42755219 [GRCh38] Chr1:43220890 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.3(P3H1):c.2024G>T (p.Trp675Leu) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000701396] | Chr1:42747303 [GRCh38] Chr1:43212974 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup | duplication | Charcot-Marie-Tooth disease, dominant intermediate C [RCV000708276] | Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1 |
uncertain significance |
| NM_022356.3(P3H1):c.953C>T (p.Thr318Ile) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000690269] | Chr1:42757910 [GRCh38] Chr1:43223581 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.399C>A (p.Ser133Arg) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000696143] | Chr1:42766573 [GRCh38] Chr1:43232244 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.940+1G>T | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000686871] | Chr1:42758851 [GRCh38] Chr1:43224522 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.3(P3H1):c.674T>C (p.Val225Ala) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000697114] | Chr1:42759335 [GRCh38] Chr1:43225006 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
| NM_022356.4(P3H1):c.1081-9T>C | single nucleotide variant | not provided [RCV000938858] | Chr1:42755646 [GRCh38] Chr1:43221317 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.585C>T (p.Ala195=) | single nucleotide variant | not provided [RCV000872760] | Chr1:42762356 [GRCh38] Chr1:43228027 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1627G>A (p.Glu543Lys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001065488] | Chr1:42750279 [GRCh38] Chr1:43215950 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.808+5G>A | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001096108] | Chr1:42759196 [GRCh38] Chr1:43224867 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1472A>G (p.Asn491Ser) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001044205] | Chr1:42752538 [GRCh38] Chr1:43218209 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 | copy number gain | Global developmental delay [RCV000787285] | Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
| NM_022356.4(P3H1):c.207C>T (p.Arg69=) | single nucleotide variant | not provided [RCV000929174] | Chr1:42766765 [GRCh38] Chr1:43232436 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1890T>C (p.Thr630=) | single nucleotide variant | not provided [RCV000898956] | Chr1:42747747 [GRCh38] Chr1:43213418 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.2198A>G (p.Lys733Arg) | single nucleotide variant | not provided [RCV000902398] | Chr1:42746710 [GRCh38] Chr1:43212381 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1740G>A (p.Lys580=) | single nucleotide variant | not provided [RCV000906983] | Chr1:42748298 [GRCh38] Chr1:43213969 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1176A>G (p.Ser392=) | single nucleotide variant | not provided [RCV000936702] | Chr1:42755212 [GRCh38] Chr1:43220883 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.882G>A (p.Lys294=) | single nucleotide variant | not provided [RCV000883906] | Chr1:42758910 [GRCh38] Chr1:43224581 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.618+10A>G | single nucleotide variant | not provided [RCV000943515] | Chr1:42762313 [GRCh38] Chr1:43227984 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1215G>A (p.Glu405=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000877300] | Chr1:42755173 [GRCh38] Chr1:43220844 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1992C>T (p.Val664=) | single nucleotide variant | not provided [RCV000920408] | Chr1:42747335 [GRCh38] Chr1:43213006 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1458G>A (p.Leu486=) | single nucleotide variant | not provided [RCV000948540] | Chr1:42752552 [GRCh38] Chr1:43218223 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.393G>A (p.Ser131=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000898172] | Chr1:42766579 [GRCh38] Chr1:43232250 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1683T>C (p.Phe561=) | single nucleotide variant | not provided [RCV000923647] | Chr1:42750223 [GRCh38] Chr1:43215894 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1446G>A (p.Glu482=) | single nucleotide variant | not provided [RCV000979359] | Chr1:42752564 [GRCh38] Chr1:43218235 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.2131dup (p.Leu711fs) | duplication | Osteogenesis imperfecta type III [RCV000860007] | Chr1:42746776..42746777 [GRCh38] Chr1:43212447..43212448 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.4(P3H1):c.219G>C (p.Leu73=) | single nucleotide variant | not provided [RCV000883440] | Chr1:42766753 [GRCh38] Chr1:43232424 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.2041C>T (p.Arg681Ter) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV000778981] | Chr1:42747286 [GRCh38] Chr1:43212957 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.3(P3H1):c.1570-203T>C | single nucleotide variant | not provided [RCV000827835] | Chr1:42750539 [GRCh38] Chr1:43216210 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.466-43A>T | single nucleotide variant | not provided [RCV000834227] | Chr1:42762518 [GRCh38] Chr1:43228189 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.1838+74T>C | single nucleotide variant | not provided [RCV000834228] | Chr1:42748126 [GRCh38] Chr1:43213797 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.1839-30G>A | single nucleotide variant | not provided [RCV000834229] | Chr1:42747828 [GRCh38] Chr1:43213499 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.2055+74T>A | single nucleotide variant | not provided [RCV000834230] | Chr1:42747198 [GRCh38] Chr1:43212869 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.1721-5C>A | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000806867] | Chr1:42748322 [GRCh38] Chr1:43213993 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.193C>T (p.Arg65Trp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000803157] | Chr1:42766779 [GRCh38] Chr1:43232450 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1224G>A (p.Lys408=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000819831] | Chr1:42754990 [GRCh38] Chr1:43220661 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1963A>G (p.Thr655Ala) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000805438] | Chr1:42747364 [GRCh38] Chr1:43213035 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.148G>A (p.Asp50Asn) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000812265] | Chr1:42766824 [GRCh38] Chr1:43232495 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.618+127C>T | single nucleotide variant | not provided [RCV000826433] | Chr1:42762196 [GRCh38] Chr1:43227867 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.32C>T (p.Thr11Ile) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000812758] | Chr1:42766940 [GRCh38] Chr1:43232611 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1839-141A>G | single nucleotide variant | not provided [RCV000826436] | Chr1:42747939 [GRCh38] Chr1:43213610 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.941-52A>C | single nucleotide variant | not provided [RCV000835396] | Chr1:42757974 [GRCh38] Chr1:43223645 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.511G>A (p.Val171Met) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000800711] | Chr1:42762430 [GRCh38] Chr1:43228101 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.970G>A (p.Ala324Thr) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000815521] | Chr1:42757893 [GRCh38] Chr1:43223564 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.146G>A (p.Gly49Glu) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000803266] | Chr1:42766826 [GRCh38] Chr1:43232497 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.284C>A (p.Pro95Gln) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000816380] | Chr1:42766688 [GRCh38] Chr1:43232359 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.232C>T (p.Gln78Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000786860] | Chr1:42766740 [GRCh38] Chr1:43232411 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000822886] | Chr1:42752551 [GRCh38] Chr1:43218222 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1972C>A (p.Pro658Thr) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000797451] | Chr1:42747355 [GRCh38] Chr1:43213026 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1570-294T>C | single nucleotide variant | not provided [RCV000826434] | Chr1:42750630 [GRCh38] Chr1:43216301 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1720+286T>C | single nucleotide variant | not provided [RCV000826435] | Chr1:42749900 [GRCh38] Chr1:43215571 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.698A>C (p.Gln233Pro) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000802236] | Chr1:42759311 [GRCh38] Chr1:43224982 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1135G>A (p.Ala379Thr) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101545]|Osteogenesis imperfecta type 8 [RCV000805255] | Chr1:42755583 [GRCh38] Chr1:43221254 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1856del (p.Asn619fs) | deletion | Osteogenesis imperfecta type 8 [RCV000809286] | Chr1:42747781 [GRCh38] Chr1:43213452 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.4(P3H1):c.826C>G (p.Leu276Val) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001096107] | Chr1:42758966 [GRCh38] Chr1:43224637 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1097G>A (p.Arg366Gln) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001043386] | Chr1:42755621 [GRCh38] Chr1:43221292 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.807A>G (p.Thr269=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001096109] | Chr1:42759202 [GRCh38] Chr1:43224873 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.1670C>T (p.Thr557Met) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000810954] | Chr1:42750236 [GRCh38] Chr1:43215907 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.466A>G (p.Ile156Val) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000792261] | Chr1:42762475 [GRCh38] Chr1:43228146 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.618+4A>G | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000821254] | Chr1:42762319 [GRCh38] Chr1:43227990 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1795G>A (p.Val599Met) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000876554] | Chr1:42748243 [GRCh38] Chr1:43213914 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.194G>A (p.Arg65Gln) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000876555] | Chr1:42766778 [GRCh38] Chr1:43232449 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1402G>T (p.Gly468Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000815103] | Chr1:42752608 [GRCh38] Chr1:43218279 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.3(P3H1):c.541C>T (p.Gln181Ter) | single nucleotide variant | Osteogenesis imperfecta [RCV000790419] | Chr1:42762400 [GRCh38] Chr1:43228071 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.-165G>C | single nucleotide variant | not provided [RCV000834226] | Chr1:42767136 [GRCh38] Chr1:43232807 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.4(P3H1):c.783C>T (p.Asn261=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000875963] | Chr1:42759226 [GRCh38] Chr1:43224897 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.3(P3H1):c.1914+109G>A | single nucleotide variant | not provided [RCV000834533] | Chr1:42747614 [GRCh38] Chr1:43213285 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000811339] | Chr1:42757803 [GRCh38] Chr1:43223474 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.3(P3H1):c.1914+5G>C | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000811907] | Chr1:42747718 [GRCh38] Chr1:43213389 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1559A>G (p.Lys520Arg) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001067457] | Chr1:42752284 [GRCh38] Chr1:43217955 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.*77C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095900]|Osteogenesis imperfecta type 8 [RCV001095901] | Chr1:42746620 [GRCh38] Chr1:43212291 [GRCh37] Chr1:1p34.2 |
benign|uncertain significance |
| NM_022356.4(P3H1):c.2100A>G (p.Pro700=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097678] | Chr1:42746808 [GRCh38] Chr1:43212479 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.69G>A (p.Glu23=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099659] | Chr1:42766903 [GRCh38] Chr1:43232574 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2148C>T (p.Gly716=) | single nucleotide variant | not provided [RCV000869480] | Chr1:42746760 [GRCh38] Chr1:43212431 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.582G>C (p.Glu194Asp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001043439] | Chr1:42762359 [GRCh38] Chr1:43228030 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1775T>C (p.Ile592Thr) | single nucleotide variant | not provided [RCV000993973] | Chr1:42748263 [GRCh38] Chr1:43213934 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2170_2171TC[2] (p.Leu725fs) | microsatellite | Osteogenesis imperfecta type 8 [RCV000985229] | Chr1:42746731..42746734 [GRCh38] Chr1:43212402..43212405 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1367G>A (p.Gly456Asp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001220862] | Chr1:42752643 [GRCh38] Chr1:43218314 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1795G>C (p.Val599Leu) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001243075] | Chr1:42748243 [GRCh38] Chr1:43213914 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001223428] | Chr1:42754929 [GRCh38] Chr1:43220600 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.809-5T>C | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001204063] | Chr1:42758988 [GRCh38] Chr1:43224659 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.980A>G (p.Tyr327Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001211241] | Chr1:42757883 [GRCh38] Chr1:43223554 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1722G>C (p.Glu574Asp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001225553] | Chr1:42748316 [GRCh38] Chr1:43213987 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.239C>T (p.Ala80Val) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001221909] | Chr1:42766733 [GRCh38] Chr1:43232404 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2006G>A (p.Arg669His) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001241150] | Chr1:42747321 [GRCh38] Chr1:43212992 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.*257G>A | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095897]|Osteogenesis imperfecta type 8 [RCV001095898] | Chr1:42746440 [GRCh38] Chr1:43212111 [GRCh37] Chr1:1p34.2 |
benign |
| NM_022356.4(P3H1):c.*116C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095899] | Chr1:42746581 [GRCh38] Chr1:43212252 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001095989] | Chr1:42750267 [GRCh38] Chr1:43215938 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1359G>T (p.Leu453=) | single nucleotide variant | not provided [RCV000955083] | Chr1:42752651 [GRCh38] Chr1:43218322 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.993C>T (p.Phe331=) | single nucleotide variant | not provided [RCV000931608] | Chr1:42757870 [GRCh38] Chr1:43223541 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1242C>T (p.Ala414=) | single nucleotide variant | not provided [RCV000945124] | Chr1:42754972 [GRCh38] Chr1:43220643 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.435C>G (p.Pro145=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000970635] | Chr1:42766537 [GRCh38] Chr1:43232208 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.33A>G (p.Thr11=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001002074] | Chr1:42766939 [GRCh38] Chr1:43232610 [GRCh37] Chr1:1p34.2 |
benign|likely benign |
| NM_022356.4(P3H1):c.1980dup (p.Val661fs) | duplication | Osteogenesis imperfecta type III [RCV000860008] | Chr1:42747346..42747347 [GRCh38] Chr1:43213017..43213018 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.4(P3H1):c.630A>G (p.Arg210=) | single nucleotide variant | not provided [RCV000916744] | Chr1:42759379 [GRCh38] Chr1:43225050 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV000951979] | Chr1:42752326 [GRCh38] Chr1:43217997 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.388C>G (p.His130Asp) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001208357] | Chr1:42766584 [GRCh38] Chr1:43232255 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1247G>A (p.Arg416His) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001099568] | Chr1:42754967 [GRCh38] Chr1:43220638 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.7G>A (p.Val3Ile) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001099660] | Chr1:42766965 [GRCh38] Chr1:43232636 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NC_000001.11:g.42767066T>C | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099665] | Chr1:42767066 [GRCh38] Chr1:43232737 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2050G>A (p.Glu684Lys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001223815] | Chr1:42747277 [GRCh38] Chr1:43212948 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1527C>T (p.Pro509=) | single nucleotide variant | not provided [RCV000934839] | Chr1:42752316 [GRCh38] Chr1:43217987 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.232del (p.Gln78fs) | deletion | not provided [RCV001008787] | Chr1:42766740 [GRCh38] Chr1:43232411 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.4(P3H1):c.1915G>T (p.Ala639Ser) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099455] | Chr1:42747412 [GRCh38] Chr1:43213083 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2108T>C (p.Met703Thr) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001097677] | Chr1:42746800 [GRCh38] Chr1:43212471 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1945G>C (p.Val649Leu) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001044839] | Chr1:42747382 [GRCh38] Chr1:43213053 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1086C>T (p.Ala362=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101546] | Chr1:42755632 [GRCh38] Chr1:43221303 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1075C>G (p.Arg359Gly) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001049167] | Chr1:42757788 [GRCh38] Chr1:43223459 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.-29C>G | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099661] | Chr1:42767000 [GRCh38] Chr1:43232671 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NC_000001.11:g.42767077C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099666] | Chr1:42767077 [GRCh38] Chr1:43232748 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001071766] | Chr1:42750269 [GRCh38] Chr1:43215940 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001067198] | Chr1:42754988 [GRCh38] Chr1:43220659 [GRCh37] Chr1:1p34.2 |
pathogenic |
| NM_022356.4(P3H1):c.*262C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001095895]|Osteogenesis imperfecta type 8 [RCV001095896] | Chr1:42746435 [GRCh38] Chr1:43212106 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.619-11C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001096111] | Chr1:42759401 [GRCh38] Chr1:43225072 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1909G>A (p.Val637Met) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001002012] | Chr1:42747728 [GRCh38] Chr1:43213399 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2055+13C>A | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001099452] | Chr1:42747259 [GRCh38] Chr1:43212930 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1914G>A (p.Thr638=) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001230250] | Chr1:42747723 [GRCh38] Chr1:43213394 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.934T>C (p.Tyr312His) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001236833] | Chr1:42758858 [GRCh38] Chr1:43224529 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1621G>A (p.Val541Met) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001050647] | Chr1:42750285 [GRCh38] Chr1:43215956 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1525C>A (p.Pro509Thr) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097771] | Chr1:42752318 [GRCh38] Chr1:43217989 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001039117] | Chr1:42752584 [GRCh38] Chr1:43218255 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1889C>T (p.Thr630Ile) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001217961] | Chr1:42747748 [GRCh38] Chr1:43213419 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1325T>C (p.Val442Ala) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001232335] | Chr1:42754889 [GRCh38] Chr1:43220560 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.88T>C (p.Trp30Arg) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001205572] | Chr1:42766884 [GRCh38] Chr1:43232555 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1170+14C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101544] | Chr1:42755534 [GRCh38] Chr1:43221205 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.343C>T (p.Arg115Cys) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001040368] | Chr1:42766629 [GRCh38] Chr1:43232300 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1170+6C>G | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001036321] | Chr1:42755542 [GRCh38] Chr1:43221213 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1429G>A (p.Val477Ile) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097775]|Osteogenesis imperfecta type 8 [RCV001228506] | Chr1:42752581 [GRCh38] Chr1:43218252 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.599T>G (p.Leu200Arg) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001097861] | Chr1:42762342 [GRCh38] Chr1:43228013 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001056628] | Chr1:42748207 [GRCh38] Chr1:43213878 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1661G>A (p.Arg554His) | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001063380] | Chr1:42750245 [GRCh38] Chr1:43215916 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1686C>T (p.Ser562=) | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101452] | Chr1:42750220 [GRCh38] Chr1:43215891 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.1081-6C>T | single nucleotide variant | Osteogenesis Imperfecta, Recessive [RCV001101547] | Chr1:42755643 [GRCh38] Chr1:43221314 [GRCh37] Chr1:1p34.2 |
uncertain significance |
| NM_022356.4(P3H1):c.2055+41G>A | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001262902] | Chr1:42747231 [GRCh38] Chr1:43212902 [GRCh37] Chr1:1p34.2 |
likely benign |
| NM_022356.4(P3H1):c.1839-2A>C | single nucleotide variant | Osteogenesis imperfecta type 8 [RCV001261598] | Chr1:42747800 [GRCh38] Chr1:43213471 [GRCh37] Chr1:1p34.2 |
likely pathogenic |
| NM_022356.4(P3H1):c.310del (p.Leu104fs) | deletion | Osteogenesis imperfecta type 8 [RCV001262352] | Chr1:42766662 [GRCh38] Chr1:43232333 [GRCh37] Chr1:1p34.2 |
uncertain significance |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:19316 | AgrOrtholog |
| COSMIC | P3H1 | COSMIC |
| Ensembl Genes | ENSG00000117385 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| Ensembl Protein | ENSP00000236040 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000296388 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000361604 | UniProtKB/TrEMBL | |
| ENSP00000380245 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000408056 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000236040 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000296388 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000372526 | UniProtKB/TrEMBL | |
| ENST00000397054 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000431412 | UniProtKB/TrEMBL | |
| ENST00000495874 | ENTREZGENE | |
| GTEx | ENSG00000117385 | GTEx |
| HGNC ID | HGNC:19316 | ENTREZGENE |
| Human Proteome Map | P3H1 | Human Proteome Map |
| InterPro | Oxoglu/Fe-dep_dioxygenase | UniProtKB/Swiss-Prot |
| P3H | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| P3H1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| Pro_4_hyd_alph | UniProtKB/Swiss-Prot | |
| TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:64175 | UniProtKB/Swiss-Prot |
| NCBI Gene | 64175 | ENTREZGENE |
| OMIM | 610339 | OMIM |
| 610915 | OMIM | |
| PANTHER | PTHR14049 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| PTHR14049:SF5 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| Pfam | 2OG-FeII_Oxy_3 | UniProtKB/Swiss-Prot |
| PharmGKB | PA134930599 | PharmGKB |
| PROSITE | ER_TARGET | UniProtKB/Swiss-Prot |
| FE2OG_OXY | UniProtKB/Swiss-Prot | |
| SMART | P4Hc | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot |
| UniGene | Hs.720014 | ENTREZGENE |
| UniProt | E2QRI1_HUMAN | UniProtKB/TrEMBL |
| H7C2W6_HUMAN | UniProtKB/TrEMBL | |
| P3H1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | Q7KZR4 | UniProtKB/Swiss-Prot |
| Q96BR8 | UniProtKB/Swiss-Prot | |
| Q96SK8 | UniProtKB/Swiss-Prot | |
| Q96SL5 | UniProtKB/Swiss-Prot | |
| Q96SN3 | UniProtKB/Swiss-Prot | |
| Q9H6K3 | UniProtKB/Swiss-Prot | |
| Q9HC86 | UniProtKB/Swiss-Prot | |
| Q9HC87 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2014-12-16 | P3H1 | prolyl 3-hydroxylase 1 | LEPRE1 | leucine proline-enriched proteoglycan (leprecan) 1 | Symbol and/or name change | 5135510 | APPROVED |
| 2011-08-23 | LEPRE1 | leucine proline-enriched proteoglycan (leprecan) 1 | LEPRE1 | leucine proline-enriched proteoglycan (leprecan) 1 | Symbol and/or name change | 5135510 | APPROVED |
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| More on P3H1 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1602868 |
| Created: | 2007-04-28 |
| Species: | Homo sapiens |
| Last Modified: | 2020-11-10 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
