 |
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
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 |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Williams-Beuren syndrome | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16448863 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
|
|
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology Annotations
|
|
|
|
|
|
|
|
Molecular Pathway Annotations
|
Phenotype Annotations
|
|
|
References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1. |
| 3. | Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4. |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 9828126 9847074 9858827 10662543 11124022 11980720 12477932 12853948 14702039 15302935 15543136 15635413 16344560 16514417 16565220 16603771 17081983 18162579 19060906 19060911 19092802 19394292 19454010 19656773 19913121 20139978 20195357 20580033 20628086 20657596 20802025 20864672 21326359 21490707 21555454 21907836 22412018 22586326 22751105 22939629 23085504 23263486 23319141 23505323 23555303 23752268 24457600 24711643 24800743 25693804 26468281 26496610 26514267 26755828 27449264 27449290 28077445 28514442 28610873 28977666 29021563 29180619 29467282 29478914 29507755 29509190 29568061 29911972 30021884 30463901 30471916 |
Comparative Map Data| BAZ1B (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Baz1b (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Baz1b (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Baz1b (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BAZ1B (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BAZ1B (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Baz1b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BAZ1B (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| GDB:1317822 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:1318124 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:4585423 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| G20570 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D7S3288 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D7S3289 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D7S3300 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D7S3301 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D7S2024 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:1318352 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:1317820 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RH65972 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:1317340 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:4585619 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:1318100 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:1318116 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BAZ1B_3920 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RH17036 |
|
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. |
||||||||
Nucleotide Sequences| RefSeq Transcripts | NG_027679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001370402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_032408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001744892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB032253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC005074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC005089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF072810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF084479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK123274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC041561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC050599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC065029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC080544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC136520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU632531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA739467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KT584714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001370402 ⟹ NP_001357331 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_032408 ⟹ NP_115784 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
CGTTGGCCGGGCCCGGGGGAGGAGGGGAATCTCCCGCCATTTTTCAATAATTTCCTCCGGTGCThide sequence |
| RefSeq Acc Id: | XR_001744892 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ACCCCTCCCTTCCCCCACCCCACCCCCGGGCGCCTGGCGCTCGCTCCGGGCCGCGGGGCCTAGThide sequence |
Protein Sequences| Protein RefSeqs | NP_001357331 | (Get FASTA) | NCBI Sequence Viewer |
| NP_115784 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC97879 | (Get FASTA) | NCBI Sequence Viewer |
| AAD04720 | (Get FASTA) | NCBI Sequence Viewer | |
| AAD08675 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH65029 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI36521 | (Get FASTA) | NCBI Sequence Viewer | |
| AAP22332 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA89210 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW69679 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW69680 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW69681 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9UIG0 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_115784 ⟸ NM_032408 |
| - UniProtKB: | Q9UIG0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAPLLGRKPFPLVKPLPGEEPLFTIPHTQEAFRTREEYEARLERYSERIWTCKSTGSSQLTHKEhide sequence |
| RefSeq Acc Id: | NP_001357331 ⟸ NM_001370402 |
Promoters| RGD ID: | 6805498 | |||||||||
| Promoter ID: | HG_KWN:57955 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000404251, NM_032408 | |||||||||
| Position: |
|
| RGD ID: | 7210761 | |||||||||
| Promoter ID: | EPDNEW_H11126 | |||||||||
| Type: | initiation region | |||||||||
| Name: | BAZ1B_1 | |||||||||
| Description: | bromodomain adjacent to zinc finger domain 1B | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050709]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050709]|See cases [RCV000050709] | Chr7:71225344..81735657 [GRCh38] Chr7:70690330..81364973 [GRCh37] Chr7:70328266..81202909 [NCBI36] Chr7:7q11.22-21.11 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 | copy number gain | Expressive language delay [RCV000050379]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050380]|Global developmental delay [RCV000050381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050380]|See cases [RCV000050379] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 | copy number loss | Global developmental delay [RCV000050382]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050383]|Cleft palate, isolated [RCV000050384]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050383]|See cases [RCV000050382] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 | copy number loss | Autism [RCV000051134]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051135]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051135]|See cases [RCV000051134] | Chr7:73352304..74924037 [GRCh38] Chr7:72766313..74339044 [GRCh37] Chr7:72404249..73976980 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050996]|See cases [RCV000050996] | Chr7:72930548..74869255 [GRCh38] Chr7:72401086..74285345 [GRCh37] Chr7:72039022..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 | copy number loss | Global developmental delay [RCV000050999]|See cases [RCV000050999] | Chr7:73352304..74869255 [GRCh38] Chr7:72766313..74285345 [GRCh37] Chr7:72404249..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] | Chr7:64560824..79186156 [GRCh38] Chr7:64021202..78815472 [GRCh37] Chr7:63658637..78653408 [NCBI36] Chr7:7q11.21-21.11 |
pathogenic |
| GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 | copy number loss | Global developmental delay [RCV000052321]|See cases [RCV000052321] | Chr7:68668307..73710276 [GRCh38] Chr7:68133294..72806397 [GRCh37] Chr7:67771230..72762542 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
| GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 | copy number gain | Macrocephaly [RCV000051965]|See cases [RCV000051965] | Chr7:72649515..75361855 [GRCh38] Chr7:72196405..74991125 [GRCh37] Chr7:71752436..74829061 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 | copy number gain | Renal adysplasia [RCV000051966]|See cases [RCV000051966] | Chr7:72768821..74869255 [GRCh38] Chr7:72233835..74285345 [GRCh37] Chr7:71871771..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 | copy number gain | Obesity [RCV000051967]|See cases [RCV000051967] | Chr7:73280574..74725240 [GRCh38] Chr7:72665462..74139573 [GRCh37] Chr7:72303398..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 | copy number gain | Corpus callosum agenesis [RCV000051986]|Chiari malformation type II [RCV000051987]|Global developmental delay [RCV000051988]|See cases [RCV000051986] | Chr7:73280574..74725240 [GRCh38] Chr7:72679397..74139573 [GRCh37] Chr7:72317333..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051989]|See cases [RCV000051989] | Chr7:73280574..74839100 [GRCh38] Chr7:72683244..74267189 [GRCh37] Chr7:72321180..73905125 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3 | copy number gain | Global developmental delay [RCV000051990]|See cases [RCV000051990] | Chr7:73312575..74723034 [GRCh38] Chr7:72726571..74137354 [GRCh37] Chr7:72364507..73775290 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 | copy number gain | Global developmental delay [RCV000051991]|See cases [RCV000051991] | Chr7:73352104..74924178 [GRCh38] Chr7:72766113..74339185 [GRCh37] Chr7:72404049..73977121 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053133]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053133]|See cases [RCV000053133] | Chr7:73096542..74727989 [GRCh38] Chr7:72507129..74142327 [GRCh37] Chr7:72145065..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1 | copy number loss | Intellectual functioning disability [RCV000053143]|See cases [RCV000053143] | Chr7:73280574..74723034 [GRCh38] Chr7:72681397..74137354 [GRCh37] Chr7:72319333..73775290 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053144]|Global developmental delay [RCV000053145]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053144]|See cases [RCV000053144] | Chr7:73286412..74723034 [GRCh38] Chr7:72700414..74137354 [GRCh37] Chr7:72338350..73775290 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3 | copy number gain | Hypertelorism [RCV000053146]|See cases [RCV000053146] | Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1 | copy number loss | Primary familial hypertrophic cardiomyopathy [RCV000053147]|Absent speech [RCV000053148]|Autism [RCV000053149]|See cases [RCV000053147] | Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1 | copy number loss | Global developmental delay [RCV000053150]|See cases [RCV000053150] | Chr7:73286412..74707848 [GRCh38] Chr7:72700414..74122179 [GRCh37] Chr7:72338350..73760115 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053151]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053151]|See cases [RCV000053151] | Chr7:73352104..74719154 [GRCh38] Chr7:72766113..74133473 [GRCh37] Chr7:72404049..73771409 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053152]|Failure to thrive [RCV000053153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053152]|See cases [RCV000053152] | Chr7:73352104..74719154 [GRCh38] Chr7:72766113..74133473 [GRCh37] Chr7:72404049..73771409 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054111]|See cases [RCV000054111] | Chr7:69382353..77823832 [GRCh38] Chr7:68847339..77453149 [GRCh37] Chr7:68485275..77291085 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74133404)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|See cases [RCV000054116] | Chr7:73352304..74133404 [GRCh38] Chr7:72404249..73185670 [NCBI36] Chr7:7q11.23 |
pathogenic |
| NM_032408.3(BAZ1B):c.1084C>T (p.Pro362Ser) | single nucleotide variant | Malignant melanoma [RCV000061674] | Chr7:73478377 [GRCh38] Chr7:72892707 [GRCh37] Chr7:72530643 [NCBI36] Chr7:7q11.23 |
not provided |
| GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 | copy number loss | See cases [RCV000133638] | Chr7:73352304..76722261 [GRCh38] Chr7:72766313..76351578 [GRCh37] Chr7:72404249..76189514 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1 | copy number loss | See cases [RCV000134329] | Chr7:73304255..74718954 [GRCh38] Chr7:72718252..74133273 [GRCh37] Chr7:72356188..73771209 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1 | copy number loss | See cases [RCV000135816] | Chr7:71461127..73614730 [GRCh38] Chr7:70926112..72806397 [GRCh37] Chr7:70564048..72666996 [NCBI36] Chr7:7q11.22-11.23 |
pathogenic|likely pathogenic |
| GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 | copy number gain | See cases [RCV000135712] | Chr7:73040501..75255046 [GRCh38] Chr7:74285295..76351578 [GRCh37] Chr7:73923231..76189514 [NCBI36] Chr7:7q11.23 |
uncertain significance |
| GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 | copy number gain | See cases [RCV000136287] | Chr7:72938064..74779028 [GRCh38] Chr7:72408602..74193374 [GRCh37] Chr7:72046538..73831310 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 | copy number loss | See cases [RCV000136391] | Chr7:73280574..74924007 [GRCh38] Chr7:72636006..74339014 [GRCh37] Chr7:72273942..73976950 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3 | copy number gain | See cases [RCV000136042] | Chr7:73352303..74719008 [GRCh38] Chr7:72766312..74133327 [GRCh37] Chr7:72404248..73771263 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1 | copy number loss | See cases [RCV000136046] | Chr7:73352303..74719008 [GRCh38] Chr7:72766312..74133327 [GRCh37] Chr7:72404248..73771263 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 | copy number loss | See cases [RCV000136076] | Chr7:73352303..74924023 [GRCh38] Chr7:72766312..74339030 [GRCh37] Chr7:72404248..73976966 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 | copy number loss | See cases [RCV000136014] | Chr7:73352303..74779051 [GRCh38] Chr7:72766312..74193397 [GRCh37] Chr7:72404248..73831333 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1 | copy number loss | See cases [RCV000136793] | Chr7:73312582..74725057 [GRCh38] Chr7:72726578..74139390 [GRCh37] Chr7:72364514..73777326 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 | copy number gain | See cases [RCV000138102] | Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 | copy number loss | See cases [RCV000138103] | Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1 | copy number loss | See cases [RCV000137730] | Chr7:73286412..73556222 [GRCh38] Chr7:72338350..72608488 [NCBI36] Chr7:7q11.23 |
uncertain significance |
| GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 | copy number gain | See cases [RCV000137731] | Chr7:73040501..75255046 [GRCh38] Chr7:72635638..74904285 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1 | copy number loss | See cases [RCV000138355] | Chr7:73286412..74727989 [GRCh38] Chr7:72700414..74142327 [GRCh37] Chr7:72338350..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3 | copy number gain | See cases [RCV000138356] | Chr7:73280574..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1 | copy number loss | See cases [RCV000138357] | Chr7:73271690..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 | copy number loss | See cases [RCV000139190] | Chr7:73192369..74869255 [GRCh38] Chr7:72606409..74285345 [GRCh37] Chr7:72244345..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 | copy number gain | See cases [RCV000139121] | Chr7:73280574..74779057 [GRCh38] Chr7:72663962..74193403 [GRCh37] Chr7:72301898..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 | copy number loss | See cases [RCV000139797] | Chr7:73286412..74869255 [GRCh38] Chr7:72700414..74285345 [GRCh37] Chr7:72338350..73923281 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 | copy number loss | See cases [RCV000140662] | Chr7:73286412..74779057 [GRCh38] Chr7:72700414..74193403 [GRCh37] Chr7:72338350..73831339 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 | copy number gain | See cases [RCV000140718] | Chr7:73192369..74883978 [GRCh38] Chr7:72606409..74300084 [GRCh37] Chr7:72244345..73938020 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3 | copy number gain | See cases [RCV000141703] | Chr7:73175475..74740268 [GRCh38] Chr7:72589515..74154603 [GRCh37] Chr7:72227451..73792539 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3 | copy number gain | See cases [RCV000142341] | Chr7:73286125..74732517 [GRCh38] Chr7:72700127..74146858 [GRCh37] Chr7:72338063..73784794 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 | copy number loss | See cases [RCV000142414] | Chr7:73280574..74789341 [GRCh38] Chr7:72637824..74203685 [GRCh37] Chr7:72275760..73841621 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 | copy number gain | See cases [RCV000142242] | Chr7:62977085..75415352 [GRCh38] Chr7:62437463..75044630 [GRCh37] Chr7:62074898..74882566 [NCBI36] Chr7:7q11.21-11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1 | copy number loss | See cases [RCV000142230] | Chr7:73286508..74727852 [GRCh38] Chr7:72700510..74142190 [GRCh37] Chr7:72338446..73780126 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1 | copy number loss | See cases [RCV000142156] | Chr7:73280574..74727918 [GRCh38] Chr7:72650120..74142256 [GRCh37] Chr7:72288056..73780192 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1 | copy number loss | See cases [RCV000142159] | Chr7:73286522..74727156 [GRCh38] Chr7:72700524..74141494 [GRCh37] Chr7:72338460..73779430 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1 | copy number loss | See cases [RCV000142891] | Chr7:73286412..74758583 [GRCh38] Chr7:72700414..74172913 [GRCh37] Chr7:72338350..73810849 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 | copy number gain | See cases [RCV000142690] | Chr7:73352304..75065728 [GRCh38] Chr7:72766313..74481540 [GRCh37] Chr7:72404249..74119476 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 | copy number loss | See cases [RCV000142528] | Chr7:62736364..75432710 [GRCh38] Chr7:62196742..75061986 [GRCh37] Chr7:61834177..74899922 [NCBI36] Chr7:7q11.21-11.23 |
pathogenic |
| GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) | copy number gain | See cases [RCV000143454] | Chr7:72179092..79164071 [GRCh38] Chr7:71644077..78793387 [GRCh37] Chr7:71282013..78631323 [NCBI36] Chr7:7q11.22-21.11 |
likely pathogenic |
| GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3 | copy number gain | See cases [RCV000143390] | Chr7:73280574..74728722 [GRCh38] Chr7:72677301..74143060 [GRCh37] Chr7:72315237..73780996 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1 | copy number loss | See cases [RCV000143344] | Chr7:71478043..73444574 [GRCh38] Chr7:70943028..72806397 [GRCh37] Chr7:70580964..72496840 [NCBI36] Chr7:7q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 | copy number gain | See cases [RCV000148080] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 | copy number loss | See cases [RCV000148081] | Chr7:73352304..74924037 [GRCh38] Chr7:72766313..74339044 [GRCh37] Chr7:72404249..73976980 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1 | copy number loss | See cases [RCV000143632] | Chr7:73304280..74727852 [GRCh38] Chr7:72718277..74142190 [GRCh37] Chr7:72356213..73780126 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 | copy number loss | See cases [RCV000148142] | Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1 | copy number loss | See cases [RCV000239835] | Chr7:72718252..74133332 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1 | copy number loss | See cases [RCV000239823] | Chr7:72708237..74339044 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1 | copy number loss | See cases [RCV000258813] | Chr7:72722981..74217390 [GRCh37] Chr7:7q11.23 |
pathogenic|likely pathogenic |
| GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1 | copy number loss | See cases [RCV000207450] | Chr7:72722981..74141840 [GRCh37] Chr7:7q11.23 |
pathogenic |
| Single allele | duplication | Autism spectrum disorder [RCV000225382]|Autism spectrum disorders [RCV000225382] | Chr7:72718278..74140708 [GRCh37] Chr7:7q11.23 |
pathogenic |
| Single allele | duplication | Intestinal malrotation [RCV000754986] | Chr7:72634873..74142327 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
| GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3 | copy number gain | See cases [RCV000240527] | Chr7:71968212..74133332 [GRCh37] Chr7:7q11.22-11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1 | copy number loss | See cases [RCV000449356] | Chr7:72713253..74142256 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1 | copy number loss | See cases [RCV000449372] | Chr7:72718277..74141673 [GRCh37] Chr7:7q11.23 |
pathogenic |
| TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3 | copy number gain | See cases [RCV000446793] | Chr7:72700127..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1 | copy number loss | See cases [RCV000447530] | Chr7:72713253..74143030 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 | copy number loss | See cases [RCV000447273] | Chr7:72718277..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1 | copy number loss | See cases [RCV000446832] | Chr7:72708237..74133273 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3 | copy number gain | See cases [RCV000446236] | Chr7:72686958..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 | copy number loss | See cases [RCV000447620] | Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1 | copy number loss | See cases [RCV000446172] | Chr7:72718277..74146948 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1 | copy number loss | See cases [RCV000447454] | Chr7:72718277..74142215 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3 | copy number gain | See cases [RCV000445755] | Chr7:72692112..74141746 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1 | copy number loss | See cases [RCV000447774] | Chr7:72700524..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1 | copy number loss | See cases [RCV000448046] | Chr7:72718277..74141784 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1 | copy number loss | See cases [RCV000448666] | Chr7:72718123..74141746 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3 | copy number gain | See cases [RCV000448344] | Chr7:72472922..74259176 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3 | copy number gain | See cases [RCV000512105] | Chr7:72700524..74142256 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1 | copy number loss | See cases [RCV000515566] | Chr7:72722981..73198616 [GRCh37] Chr7:7q11.23 |
uncertain significance |
| GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1 | copy number loss | See cases [RCV000512130] | Chr7:72643631..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3 | copy number gain | See cases [RCV000512048] | Chr7:72677301..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1 | copy number loss | See cases [RCV000510195] | Chr7:72718277..74287433 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1 | copy number loss | See cases [RCV000510198] | Chr7:72718277..74259899 [GRCh37] Chr7:7q11.23 |
pathogenic |
| NM_032408.4(BAZ1B):c.3071+1G>T | single nucleotide variant | not provided [RCV000509476] | Chr7:73465438 [GRCh38] Chr7:72879768 [GRCh37] Chr7:7q11.23 |
not provided |
| GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1 | copy number loss | See cases [RCV000510144] | Chr7:72701018..74141493 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1 | copy number loss | See cases [RCV000510243] | Chr7:72691242..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1 | copy number loss | See cases [RCV000511510] | Chr7:72718277..73898515 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1 | copy number loss | See cases [RCV000511528] | Chr7:72718277..74146858 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3 | copy number gain | See cases [RCV000511487] | Chr7:72692112..74154497 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1 | copy number loss | See cases [RCV000511955] | Chr7:72718277..74141494 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3 | copy number gain | See cases [RCV000510884] | Chr7:72677173..74143140 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 | copy number loss | See cases [RCV000511254] | Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3 | copy number gain | See cases [RCV000510938] | Chr7:72589515..74165401 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 | copy number loss | See cases [RCV000510782] | Chr7:72456604..76007380 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72766313-74133332) | copy number loss | Abnormal facial shape [RCV000626537]|Global developmental delay [RCV000626537] | Chr7:72766313..74133332 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1 | copy number loss | See cases [RCV000512220] | Chr7:72718277..74141746 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 | copy number loss | See cases [RCV000512310] | Chr7:72536980..74629034 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3 | copy number gain | See cases [RCV000512328] | Chr7:72577021..74197846 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3 | copy number gain | See cases [RCV000512332] | Chr7:72659674..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72772522-74133319) | copy number loss | Short stature [RCV000626538] | Chr7:72772522..74133319 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3 | copy number gain | not provided [RCV000682843] | Chr7:72686958..73113924 [GRCh37] Chr7:7q11.23 |
uncertain significance |
| GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3 | copy number gain | not provided [RCV000682883] | Chr7:72700524..74069858 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1 | copy number loss | not provided [RCV000682885] | Chr7:72718123..74141784 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3 | copy number gain | not provided [RCV000682888] | Chr7:72576872..74175429 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 | copy number gain | not provided [RCV000682898] | Chr7:72577021..74859638 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1 | copy number loss | not provided [RCV000682892] | Chr7:72608514..74386749 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3 | copy number gain | not provided [RCV000682886] | Chr7:72701018..74143240 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 | copy number loss | not provided [RCV000682895] | Chr7:72612042..74574641 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1 | copy number loss | not provided [RCV000682894] | Chr7:72589515..74386749 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3 | copy number gain | not provided [RCV000682887] | Chr7:72577021..74147166 [GRCh37] Chr7:7q11.23 |
pathogenic |
| NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Speech-language disorder 1 [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1 | copy number loss | not provided [RCV000746793] | Chr7:72719386..74218536 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 | copy number loss | not provided [RCV000746794] | Chr7:72722981..74200092 [GRCh37] Chr7:7q11.23 |
pathogenic |
| Single allele | duplication | Schizophrenia [RCV000754333] | Chr7:73312644..74726596 [GRCh38] Chr7:7q11.23 |
pathogenic |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754334] | Chr7:73323103..74726596 [GRCh38] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1 | copy number loss | not provided [RCV000746792] | Chr7:72653306..74134911 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3 | copy number gain | not provided [RCV000746795] | Chr7:72743983..74145064 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1 | copy number loss | not provided [RCV000746789] | Chr7:72305671..74196360 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1 | copy number loss | not provided [RCV000746790] | Chr7:72650106..74138603 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1 | copy number loss | not provided [RCV000746791] | Chr7:72650265..74138603 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72721449-73959106) | copy number loss | Williams syndrome [RCV000767559] | Chr7:72721449..73959106 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72700996-74142190) | copy number loss | Williams syndrome [RCV000767639] | Chr7:72700996..74142190 [GRCh37] Chr7:7q11.23 |
pathogenic |
| Single allele | deletion | Neurodevelopmental disorder [RCV000787466] | Chr7:72726590..74142329 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72772522-74133319) | copy number loss | Williams syndrome [RCV000767640] | Chr7:72772522..74133319 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72744494-74339044) | copy number loss | Williams syndrome [RCV000767637] | Chr7:72744494..74339044 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72744494-76038818) | copy number loss | Williams syndrome [RCV000767638] | Chr7:72744494..76038818 [GRCh37] Chr7:7q11.23 |
pathogenic |
| Single allele | deletion | not provided [RCV000768460] | Chr7:72682338..74141250 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
| Single allele | duplication | Neurodevelopmental disorder [RCV000787457] | Chr7:72364526..73780265 [GRCh37] Chr7:7q11.23 |
likely pathogenic |
| Single allele | deletion | Neurodevelopmental disorder [RCV000787465] | Chr7:72699382..74142329 [GRCh37] Chr7:7q11.23 |
pathogenic |
| GRCh37/hg19 7q11.23(chr7:72700510-72874856)x3 | copy number gain | not provided [RCV000847348] | Chr7:72700510..72874856 [GRCh37] Chr7:7q11.23 |
uncertain significance |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:961 | AgrOrtholog |
| COSMIC | BAZ1B | COSMIC |
| Ensembl Genes | ENSG00000009954 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000342434 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000385442 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000339594 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000404251 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.20.920.10 | UniProtKB/Swiss-Prot |
| 3.30.40.10 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000009954 | GTEx |
| HGNC ID | HGNC:961 | ENTREZGENE |
| Human Proteome Map | BAZ1B | Human Proteome Map |
| InterPro | BAZ1B_Bromo | UniProtKB/Swiss-Prot |
| Bromodomain | UniProtKB/Swiss-Prot | |
| Bromodomain-like_sf | UniProtKB/Swiss-Prot | |
| Bromodomain_CS | UniProtKB/Swiss-Prot | |
| DDT_dom | UniProtKB/Swiss-Prot | |
| WHIM1_dom | UniProtKB/Swiss-Prot | |
| WHIM2_dom | UniProtKB/Swiss-Prot | |
| WSTF_Acf1_Cbp146 | UniProtKB/Swiss-Prot | |
| Zinc_finger_PHD-type_CS | UniProtKB/Swiss-Prot | |
| Znf_FYVE_PHD | UniProtKB/Swiss-Prot | |
| Znf_PHD | UniProtKB/Swiss-Prot | |
| Znf_PHD-finger | UniProtKB/Swiss-Prot | |
| Znf_RING | UniProtKB/Swiss-Prot | |
| Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:9031 | UniProtKB/Swiss-Prot |
| NCBI Gene | 9031 | ENTREZGENE |
| OMIM | 605681 | OMIM |
| Pfam | Bromodomain | UniProtKB/Swiss-Prot |
| PHD | UniProtKB/Swiss-Prot | |
| WAC_Acf1_DNA_bd | UniProtKB/Swiss-Prot | |
| WHIM1 | UniProtKB/Swiss-Prot | |
| WSD | UniProtKB/Swiss-Prot | |
| PharmGKB | PA25271 | PharmGKB |
| PRINTS | BROMODOMAIN | UniProtKB/Swiss-Prot |
| PROSITE | BROMODOMAIN_1 | UniProtKB/Swiss-Prot |
| BROMODOMAIN_2 | UniProtKB/Swiss-Prot | |
| DDT | UniProtKB/Swiss-Prot | |
| WAC | UniProtKB/Swiss-Prot | |
| ZF_PHD_1 | UniProtKB/Swiss-Prot | |
| ZF_PHD_2 | UniProtKB/Swiss-Prot | |
| SMART | BROMO | UniProtKB/Swiss-Prot |
| DDT | UniProtKB/Swiss-Prot | |
| PHD | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF47370 | UniProtKB/Swiss-Prot |
| SSF57903 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.743372 | ENTREZGENE |
| UniProt | BAZ1B_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
| UniProt Secondary | B9EGK3 | UniProtKB/Swiss-Prot |
| D3DXE9 | UniProtKB/Swiss-Prot | |
| O95039 | UniProtKB/Swiss-Prot | |
| O95247 | UniProtKB/Swiss-Prot | |
| O95277 | UniProtKB/Swiss-Prot | |
| Q6P1K4 | UniProtKB/Swiss-Prot | |
| Q86UJ6 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-12-08 | BAZ1B | bromodomain adjacent to zinc finger domain 1B | bromodomain adjacent to zinc finger domain, 1B | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-17 | BAZ1B | bromodomain adjacent to zinc finger domain, 1B | BAZ1B | bromodomain adjacent to zinc finger domain, 1B | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on BAZ1B | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1314248 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
 |
 |
 |
 |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
