 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
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Analyze GeneStrainQTL List |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 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 |
References - uncurated| PubMed | 1318310 3034894 8168838 8390966 8477745 8605996 8681952 9409201 10657246 11284697 12107412 12477932 12488461 12543931 14500828 14504658 14702039 15109574 15231748 15302935 15342556 15489334 15592455 15723802 16344560 17081983 17353931 17620599 18029348 18648073 19878569 19913121 19950580 20348541 20442750 20467437 20628086 20936779 20974809 21145461 21319273 21500547 22113938 22586326 22658674 22681889 22751105 22863883 22939629 23383273 23535732 24550385 24561205 24639526 24676454 24711643 24725430 25277244 25468996 25631074 25640309 25921289 26186194 26343856 26344197 26496610 26549023 26972000 27503909 27684187 27880917 28356383 28514442 28515276 28975734 29128334 29157910 29229926 29357390 29467282 29507755 30196744 30425250 30575818 30995489 |
Genomics
Comparative Map Data| HDLBP (Homo sapiens - human) |
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| Hdlbp (Mus musculus - house mouse) |
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| Hdlbp (Rattus norvegicus - Norway rat) |
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| Hdlbp (Chinchilla lanigera - long-tailed chinchilla) |
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| HDLBP (Pan paniscus - bonobo/pygmy chimpanzee) |
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| HDLBP (Canis lupus familiaris - dog) |
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| Hdlbp (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| HDLBP (Sus scrofa - pig) |
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Position Markers| RH101 |
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| G42013 |
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| RH104464 |
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| RH119159 |
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| D2S180E |
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| D2S1602E |
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| D2S2126 |
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| A005K34 |
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| G42014 |
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| D2S1516E |
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| IB1294 |
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| RH47030 |
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| SGC30234 |
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miRNA Target Status
Predicted Target Of
| 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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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001243900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001320965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001320966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001320967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_005336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_203346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005247002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006712475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011511058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011511060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017003940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017003941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017003942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024452832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024452833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC104841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF116718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AI434711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK026138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK092755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK131375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK296684 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK300312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK309075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK312335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL701577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC001179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC007961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC014305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC021817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC038965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC058826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC113120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG476584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG720303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG769363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP283713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP359370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX647759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX648235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CD672674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CQ834792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB282620 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC400438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC424146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HF584455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF456779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M64098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X92544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X92545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001243900 ⟹ NP_001230829 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGGCGGGATTGGGCCGCCGCCCTATATAGCAGCCGGGGCCCGGGCGCCGCGCCTCGGAGCGTCChide sequence |
| RefSeq Acc Id: | NM_001320965 ⟹ NP_001307894 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GATCGGGGGGCCTCTCTGGGATTGGCTGCGCGCACGTCACGTGGGGCCGACGGGCCCTGCGCAGhide sequence |
| RefSeq Acc Id: | NM_001320966 ⟹ NP_001307895 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
ATCTGCGAAAGTTCCTCCATGCAGGATGGGTGCCGACTTCCAGAACTTGCAAAAGCTGGCAGGChide sequence |
| RefSeq Acc Id: | NM_001320967 ⟹ NP_001307896 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGGCGGGATTGGGCCGCCGCCCTATATAGCAGCCGGGGCCCGGGCGCCGCGCCTCGGAGCGTCChide sequence |
| RefSeq Acc Id: | NM_005336 ⟹ NP_005327 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
TTTGCCAACTGCTTCCTGGCTCAGTGCGACCTGGCCTTCTTCCCCTCCCCCATGCGGCCGGCTThide sequence |
| RefSeq Acc Id: | NM_203346 ⟹ NP_976221 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGGCGGGATTGGGCCGCCGCCCTATATAGCAGCCGGGGCCCGGGCGCCGCGCCTCGGAGCGTCChide sequence |
| RefSeq Acc Id: | XM_005247002 ⟹ XP_005247059 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AGACAGCCTTAGGGGAAATGGGGAAACTGGAGAAAAGGGCTCTTATCCCAAAAGGACCAGATCChide sequence |
| RefSeq Acc Id: | XM_006712475 ⟹ XP_006712538 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGCCGCGCCTCGGAGCGTCCCGGCTTCTCCCGCGCGGGGGGCGAGTAAGCCAGCGGCAGGACCAhide sequence |
| RefSeq Acc Id: | XM_011511058 ⟹ XP_011509360 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACCTGGCCTTCTTCCCCTCCCCCATGCGGCCGGCTTCCGAGTGCGCAAGCCCAGAGTCGTCCGhide sequence |
| RefSeq Acc Id: | XM_011511060 ⟹ XP_011509362 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACCTGGCCTTCTTCCCCTCCCCCATGCGGCCGGCTTCCGAGTGCGCAAGCCCAGAGTCGTCCGhide sequence |
| RefSeq Acc Id: | XM_017003940 ⟹ XP_016859429 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CTCCCGCGCGGGGGGCGAGTAAGCCAGCGGCAGGACCAGCGGGCGGGGGCCCACGAACACATGChide sequence |
| RefSeq Acc Id: | XM_017003941 ⟹ XP_016859430 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATATAGAGGCTGGGGGTGGGGGGGGAGGTCAAGCGTAGCCTCTTCTCCTTTACCAAGATGGCGGhide sequence |
| RefSeq Acc Id: | XM_017003942 ⟹ XP_016859431 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTGGGGCCGACGGGCCCTGCGCAGACCATCGAGTCGGGCGTCCCTCCCCGGGGACGTGGCCTTChide sequence |
| RefSeq Acc Id: | XM_024452832 ⟹ XP_024308600 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTCCCGGCTTCTCCCGCGCGGGGGGCGAGTAAGCCAGCGGCAGGACCAGCGGGCGGGGGCCCAChide sequence |
| RefSeq Acc Id: | XM_024452833 ⟹ XP_024308601 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACCTGGCCTTCTTCCCCTCCCCCATGCGGCCGGCTTCCGAGTGCGCAAGCCCAGAGTCGTCCGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001230829 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001307894 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001307895 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001307896 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_005327 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_976221 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005247059 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006712538 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011509360 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011509362 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016859429 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016859430 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016859431 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024308600 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024308601 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA35962 | (Get FASTA) | NCBI Sequence Viewer |
| AAF71138 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH01179 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH14305 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI13121 | (Get FASTA) | NCBI Sequence Viewer | |
| AAY14717 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC87153 | (Get FASTA) | NCBI Sequence Viewer | |
| BAD18526 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG35256 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG59280 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG62064 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH05611 | (Get FASTA) | NCBI Sequence Viewer | |
| CAI46262 | (Get FASTA) | NCBI Sequence Viewer | |
| CCQ43952 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW71253 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW71254 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW71255 | (Get FASTA) | NCBI Sequence Viewer | |
| Q00341 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_005327 ⟸ NM_005336 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), B2R5V9 (UniProtKB/TrEMBL), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | NP_976221 ⟸ NM_203346 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), B2R5V9 (UniProtKB/TrEMBL), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | NP_001230829 ⟸ NM_001243900 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MHLAERDRWLFVATVMMHFVSIKSGFPGLCVGVRSTMSSVAVLTQESFAEHRSGLVPQQIKVAThide sequence |
| RefSeq Acc Id: | XP_005247059 ⟸ XM_005247002 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_006712538 ⟸ XM_006712475 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_011509362 ⟸ XM_011511060 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_011509360 ⟸ XM_011511058 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | NP_001307894 ⟸ NM_001320965 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL), B2R5V9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | NP_001307896 ⟸ NM_001320967 |
| - Peptide Label: | isoform c |
| - UniProtKB: | B2R5V9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | NP_001307895 ⟸ NM_001320966 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL), B2R5V9 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_016859429 ⟸ XM_017003940 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q00341 (UniProtKB/Swiss-Prot), A0A024R4E5 (UniProtKB/TrEMBL) |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_016859430 ⟸ XM_017003941 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_016859431 ⟸ XM_017003942 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_024308601 ⟸ XM_024452833 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
| RefSeq Acc Id: | XP_024308600 ⟸ XM_024452832 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MSSVAVLTQESFAEHRSGLVPQQIKVATLNSEEESDPPTYKDAFPPLPEKAACLESAQEPAGAWhide sequence |
Promoters| RGD ID: | 6863344 | |||||||||
| Promoter ID: | EPDNEW_H4837 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HDLBP_1 | |||||||||
| Description: | high density lipoprotein binding protein | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6863368 | |||||||||
| Promoter ID: | EPDNEW_H4839 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HDLBP_2 | |||||||||
| Description: | high density lipoprotein binding protein | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6815340 | |||||||||
| Promoter ID: | HG_MRA:9672 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | BC021817 | |||||||||
| Position: |
|
| RGD ID: | 6797577 | |||||||||
| Promoter ID: | HG_KWN:38178 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323473 | |||||||||
| Position: |
|
| RGD ID: | 6797572 | |||||||||
| Promoter ID: | HG_KWN:38179 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323463, OTTHUMT00000323465, OTTHUMT00000323472 | |||||||||
| Position: |
|
| RGD ID: | 6797573 | |||||||||
| Promoter ID: | HG_KWN:38180 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000323460, OTTHUMT00000323462 | |||||||||
| Position: |
|
| RGD ID: | 6797574 | |||||||||
| Promoter ID: | HG_KWN:38181 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323459 | |||||||||
| Position: |
|
| RGD ID: | 6797569 | |||||||||
| Promoter ID: | HG_KWN:38182 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323456, OTTHUMT00000323457 | |||||||||
| Position: |
|
| RGD ID: | 6797571 | |||||||||
| Promoter ID: | HG_KWN:38184 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323453, OTTHUMT00000323454 | |||||||||
| Position: |
|
| RGD ID: | 6797575 | |||||||||
| Promoter ID: | HG_KWN:38185 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323467 | |||||||||
| Position: |
|
| RGD ID: | 6797568 | |||||||||
| Promoter ID: | HG_KWN:38186 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323297, OTTHUMT00000323450, OTTHUMT00000323452 | |||||||||
| Position: |
|
| RGD ID: | 6797570 | |||||||||
| Promoter ID: | HG_KWN:38187 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323447, OTTHUMT00000323448, OTTHUMT00000323449 | |||||||||
| Position: |
|
| RGD ID: | 6797565 | |||||||||
| Promoter ID: | HG_KWN:38188 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323385, UC002WBB.1 | |||||||||
| Position: |
|
| RGD ID: | 6797559 | |||||||||
| Promoter ID: | HG_KWN:38189 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323296, OTTHUMT00000323384 | |||||||||
| Position: |
|
| RGD ID: | 6797566 | |||||||||
| Promoter ID: | HG_KWN:38190 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323382 | |||||||||
| Position: |
|
| RGD ID: | 6797563 | |||||||||
| Promoter ID: | HG_KWN:38191 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000323376 | |||||||||
| Position: |
|
| RGD ID: | 6797564 | |||||||||
| Promoter ID: | HG_KWN:38192 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | NM_203346, OTTHUMT00000323371, OTTHUMT00000323372, OTTHUMT00000323373, OTTHUMT00000323374, OTTHUMT00000323375, OTTHUMT00000323378, OTTHUMT00000323379, OTTHUMT00000323380, OTTHUMT00000323381, UC010FZN.1 | |||||||||
| Position: |
|
| RGD ID: | 6797561 | |||||||||
| Promoter ID: | HG_KWN:38193 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323370 | |||||||||
| Position: |
|
| RGD ID: | 6797567 | |||||||||
| Promoter ID: | HG_KWN:38195 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, Jurkat, Lymphoblastoid | |||||||||
| Transcripts: | ENST00000373292, ENST00000391976, OTTHUMT00000323295, OTTHUMT00000323299, OTTHUMT00000323300, OTTHUMT00000323301, OTTHUMT00000323331, OTTHUMT00000323332, OTTHUMT00000323333, OTTHUMT00000323334, OTTHUMT00000323335, OTTHUMT00000323336 | |||||||||
| Position: |
|
| RGD ID: | 6797562 | |||||||||
| Promoter ID: | HG_KWN:38196 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000323298 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050304]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050304]|See cases [RCV000050304] | Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051120]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051120]|See cases [RCV000051120] | Chr2:236555233..242126245 [GRCh38] Chr2:237463876..243059659 [GRCh37] Chr2:237128615..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 | copy number loss | Global developmental delay [RCV000051133]|See cases [RCV000051133] | Chr2:237643996..242126245 [GRCh38] Chr2:238552639..243059659 [GRCh37] Chr2:238217378..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 | copy number loss | Respiratory distress [RCV000051163]|See cases [RCV000051163] | Chr2:234345842..242126245 [GRCh38] Chr2:235254486..243059659 [GRCh37] Chr2:234919225..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 | copy number loss | Posteriorly rotated ears [RCV000052673]|See cases [RCV000052673] | Chr2:235741079..242032456 [GRCh38] Chr2:236649723..242974607 [GRCh37] Chr2:236314462..242623280 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 | copy number loss | Abnormality of the foot [RCV000052674]|See cases [RCV000052674] | Chr2:236775572..242065349 [GRCh38] Chr2:237684215..243007500 [GRCh37] Chr2:237348954..242656173 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052675]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052675]|See cases [RCV000052675] | Chr2:237526184..241996090 [GRCh38] Chr2:238434827..242938241 [GRCh37] Chr2:238099566..242586914 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] | Chr2:237643996..242065208 [GRCh38] Chr2:238552639..243007359 [GRCh37] Chr2:238217378..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] | Chr2:238939181..242065208 [GRCh38] Chr2:239860877..243007359 [GRCh37] Chr2:239525814..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 | copy number loss | Low-set ears [RCV000052702]|See cases [RCV000052702] | Chr2:240067206..242086301 [GRCh38] Chr2:241006623..243028452 [GRCh37] Chr2:240655296..242677125 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 | copy number loss | Muscular hypotonia [RCV000052703]|See cases [RCV000052703] | Chr2:240444819..242086301 [GRCh38] Chr2:241384236..243028452 [GRCh37] Chr2:241032909..242677125 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052704]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052704]|See cases [RCV000052704] | Chr2:240506951..242065349 [GRCh38] Chr2:241446368..243007500 [GRCh37] Chr2:241095041..242656173 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705] | Chr2:241179464..242065349 [GRCh38] Chr2:242118879..243007500 [GRCh37] Chr2:241767552..242656173 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052706]|See cases [RCV000052706] | Chr2:241249295..242086301 [GRCh38] Chr2:242188710..243028452 [GRCh37] Chr2:241837383..242677125 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|See cases [RCV000052707] | Chr2:241179664..242065208 [GRCh38] Chr2:242119079..243007359 [GRCh37] Chr2:241767752..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 | copy number loss | Cupped ear [RCV000052669]|See cases [RCV000052669] | Chr2:234172536..242086301 [GRCh38] Chr2:235081180..243028452 [GRCh37] Chr2:234745919..242677125 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 | copy number loss | Global developmental delay [RCV000052670]|See cases [RCV000052670] | Chr2:234668159..242126245 [GRCh38] Chr2:235576803..243059659 [GRCh37] Chr2:235241542..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] | Chr2:234906462..242065208 [GRCh38] Chr2:235815106..243007359 [GRCh37] Chr2:235479845..242656032 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052672]|See cases [RCV000052672] | Chr2:235268768..242065208 [GRCh38] Chr2:236177412..243007359 [GRCh37] Chr2:235842151..242656032 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] | Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052640]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052640]|See cases [RCV000052640] | Chr2:232857728..242065349 [GRCh38] Chr2:233722438..243007500 [GRCh37] Chr2:233430682..242656173 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 | copy number loss | Global developmental delay [RCV000052641]|See cases [RCV000052641] | Chr2:233420162..242086301 [GRCh38] Chr2:233995840..243028452 [GRCh37] Chr2:233704084..242677125 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 | copy number loss | Global developmental delay [RCV000052642]|See cases [RCV000052642] | Chr2:233453611..242099155 [GRCh38] Chr2:234362257..243041306 [GRCh37] Chr2:234026996..242689979 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] | Chr2:234225537..241565907 [GRCh38] Chr2:235134181..242505322 [GRCh37] Chr2:234798920..242153995 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052976]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052976]|See cases [RCV000052976] | Chr2:235268768..242126245 [GRCh38] Chr2:236177412..243059659 [GRCh37] Chr2:235842151..242717069 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 | copy number gain | Global developmental delay [RCV000052977]|See cases [RCV000052977] | Chr2:235563664..242086301 [GRCh38] Chr2:236472308..243028452 [GRCh37] Chr2:236137047..242677125 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052979]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052979]|See cases [RCV000052979] | Chr2:240712924..241408725 [GRCh38] Chr2:241652341..242348140 [GRCh37] Chr2:241301014..241996813 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 | copy number gain | Abnormality of the skull [RCV000052980]|See cases [RCV000052980] | Chr2:240910571..242126392 [GRCh38] Chr2:241849988..243059659 [GRCh37] Chr2:241498661..242717216 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052958]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052958]|See cases [RCV000052958] | Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052959]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052959]|See cases [RCV000052959] | Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] | Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3 |
pathogenic |
| GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 | copy number gain | Global developmental delay [RCV000052973]|See cases [RCV000052973] | Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
| NM_005336.4(HDLBP):c.321C>T (p.Ile107=) | single nucleotide variant | Malignant melanoma [RCV000060531] | Chr2:241262840 [GRCh38] Chr2:242202255 [GRCh37] Chr2:241850928 [NCBI36] Chr2:2q37.3 |
not provided |
| GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 | copy number gain | See cases [RCV000133659] | Chr2:238756369..241771051 [GRCh38] Chr2:239665010..242710466 [GRCh37] Chr2:239329749..242359139 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 | copy number gain | See cases [RCV000134169] | Chr2:228723579..241404867 [GRCh38] Chr2:229588295..242344282 [GRCh37] Chr2:229296539..241992955 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 | copy number loss | See cases [RCV000135842] | Chr2:240171137..242065208 [GRCh38] Chr2:241110554..243007359 [GRCh37] Chr2:240759227..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 | copy number loss | See cases [RCV000135864] | Chr2:237034476..242065208 [GRCh38] Chr2:237943119..243007359 [GRCh37] Chr2:237607858..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 | copy number loss | See cases [RCV000135570] | Chr2:236966763..242065208 [GRCh38] Chr2:237875406..243007359 [GRCh37] Chr2:237540145..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 | copy number loss | See cases [RCV000135545] | Chr2:240507151..242065208 [GRCh38] Chr2:241446568..243007359 [GRCh37] Chr2:241095241..242656032 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
| GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 | copy number loss | See cases [RCV000136566] | Chr2:237232204..242065208 [GRCh38] Chr2:238140847..243007359 [GRCh37] Chr2:237805586..242656032 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 | copy number gain | See cases [RCV000135934] | Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 | copy number loss | See cases [RCV000136968] | Chr2:235028429..242066108 [GRCh38] Chr2:235937073..243008259 [GRCh37] Chr2:235601812..242656932 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 | copy number loss | See cases [RCV000137069] | Chr2:234835780..242065208 [GRCh38] Chr2:235744424..243007359 [GRCh37] Chr2:235409163..242656032 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 | copy number loss | See cases [RCV000136648] | Chr2:235603604..241771051 [GRCh38] Chr2:236512248..242710466 [GRCh37] Chr2:236176987..242359139 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic|uncertain significance |
| GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 | copy number loss | See cases [RCV000136686] | Chr2:240067206..242126245 [GRCh38] Chr2:241006623..243059659 [GRCh37] Chr2:240655296..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic|uncertain significance |
| GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 | copy number loss | See cases [RCV000138117] | Chr2:238833519..242126245 [GRCh38] Chr2:239742160..243059659 [GRCh37] Chr2:239406907..242717069 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 | copy number loss | See cases [RCV000138565] | Chr2:240187901..242126245 [GRCh38] Chr2:241127318..243059659 [GRCh37] Chr2:240775991..242717069 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
| GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 | copy number loss | See cases [RCV000139808] | Chr2:237902870..242126251 [GRCh38] Chr2:238811512..243059659 [GRCh37] Chr2:238476251..242717075 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 | copy number loss | See cases [RCV000139527] | Chr2:236775762..242126251 [GRCh38] Chr2:237684405..243059659 [GRCh37] Chr2:237349144..242717075 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 | copy number loss | See cases [RCV000139805] | Chr2:236413722..242126251 [GRCh38] Chr2:237322365..243059659 [GRCh37] Chr2:236987104..242717075 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 | copy number loss | See cases [RCV000140648] | Chr2:240228628..242126245 [GRCh38] Chr2:241168045..243059659 [GRCh37] Chr2:240816718..242717069 [NCBI36] Chr2:2q37.3 |
uncertain significance |
| GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 | copy number loss | See cases [RCV000141077] | Chr2:240671231..242092126 [GRCh38] Chr2:241610648..243034277 [GRCh37] Chr2:241259321..242682950 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
| GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 | copy number loss | See cases [RCV000141661] | Chr2:235846916..241841232 [GRCh38] Chr2:236755560..242783384 [GRCh37] Chr2:236420299..242432057 [NCBI36] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 | copy number loss | See cases [RCV000141691] | Chr2:239507342..241841232 [GRCh38] Chr2:240429036..242783384 [GRCh37] Chr2:240093973..242432057 [NCBI36] Chr2:2q37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 | copy number loss | See cases [RCV000142291] | Chr2:234159653..241841232 [GRCh38] Chr2:235068297..242783384 [GRCh37] Chr2:234733036..242432057 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 | copy number gain | See cases [RCV000142307] | Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 | copy number loss | See cases [RCV000143423] | Chr2:239642965..241841232 [GRCh38] Chr2:240564659..242783384 [GRCh37] Chr2:240229596..242432057 [NCBI36] Chr2:2q37.3 |
likely pathogenic |
| GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 | copy number gain | See cases [RCV000143216] | Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
| GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 | copy number loss | See cases [RCV000148260] | Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 | copy number gain | See cases [RCV000167564] | Chr2:239873381..243006013 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 | copy number loss | See cases [RCV000449023] | Chr2:237816758..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 | copy number loss | See cases [RCV000446034] | Chr2:233784243..243040217 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 | copy number loss | See cases [RCV000446532] | Chr2:237938270..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 | copy number loss | See cases [RCV000446061] | Chr2:234495262..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 | copy number loss | See cases [RCV000445750] | Chr2:236285213..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 | copy number loss | See cases [RCV000448540] | Chr2:242045569..243040217 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
| GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 | copy number loss | See cases [RCV000447929] | Chr2:238072533..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 | copy number loss | See cases [RCV000447965] | Chr2:236911223..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 | copy number loss | See cases [RCV000448691] | Chr2:236577291..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 | copy number loss | See cases [RCV000512077] | Chr2:234495262..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 | copy number loss | See cases [RCV000510186] | Chr2:240541136..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
| GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 | copy number loss | See cases [RCV000510310] | Chr2:239748306..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 | copy number loss | See cases [RCV000511491] | Chr2:235539337..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 | copy number loss | See cases [RCV000511956] | Chr2:240630455..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
| GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 | copy number gain | See cases [RCV000512009] | Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 | copy number loss | See cases [RCV000511227] | Chr2:240161377..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 | copy number loss | See cases [RCV000790569] | Chr2:239894072..243048760 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 | copy number gain | See cases [RCV000512298] | Chr2:240141439..242783384 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
| GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 | copy number loss | See cases [RCV000512231] | Chr2:237545100..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3 | copy number gain | See cases [RCV000512463] | Chr2:241997911..242783384 [GRCh37] Chr2:2q37.3 |
uncertain significance |
| GRCh37/hg19 2q37.3(chr2:241704379-242375813)x4 | copy number gain | not provided [RCV000682097] | Chr2:241704379..242375813 [GRCh37] Chr2:2q37.3 |
uncertain significance |
| GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 | copy number loss | not provided [RCV000682102] | Chr2:242016876..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 | copy number loss | not provided [RCV000682110] | Chr2:241810311..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 | copy number loss | not provided [RCV000682145] | Chr2:240457943..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 | copy number loss | not provided [RCV000682146] | Chr2:240076138..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 | copy number loss | not provided [RCV000682148] | Chr2:239884390..242783384 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 | copy number loss | not provided [RCV000682160] | Chr2:235790256..242783384 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 | copy number gain | not provided [RCV000682161] | Chr2:234716425..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 | copy number loss | not provided [RCV000740979] | Chr2:238037759..243101834 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 | copy number loss | not provided [RCV000741039] | Chr2:241847589..243101834 [GRCh37] Chr2:2q37.3 |
pathogenic |
| GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) | copy number loss | Brachydactyly-Mental Retardation syndrome [RCV000767787] | Chr2:237028693..242708080 [GRCh37] Chr2:2q37.2-37.3 |
pathogenic |
| GRCh37/hg19 2q37.3(chr2:238795602-242918203) | copy number loss | Brachydactyly-Mental Retardation syndrome [RCV000767788] | Chr2:238795602..242918203 [GRCh37] Chr2:2q37.3 |
likely pathogenic |
| GRCh37/hg19 2q37.3(chr2:239071623-243048760) | copy number loss | Brachydactyly-Mental Retardation syndrome [RCV000767789] | Chr2:239071623..243048760 [GRCh37] Chr2:2q37.3 |
pathogenic |
| NM_001243900.2(HDLBP):c.2371C>G (p.Arg791Gly) | single nucleotide variant | Marfanoid habitus and intellectual disability [RCV000850416] | Chr2:241239742 [GRCh38] Chr2:242179157 [GRCh37] Chr2:2q37.3 |
uncertain significance |
| GRCh37/hg19 2q37.3(chr2:241582582-242285265)x3 | copy number gain | not provided [RCV000846002] | Chr2:241582582..242285265 [GRCh37] Chr2:2q37.3 |
uncertain significance |
| GRCh37/hg19 2q37.3(chr2:242205457-242291246)x1 | copy number loss | not provided [RCV000846301] | Chr2:242205457..242291246 [GRCh37] Chr2:2q37.3 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:4857 | AgrOrtholog |
| COSMIC | HDLBP | COSMIC |
| Ensembl Genes | ENSG00000115677 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000312042 | ENTREZGENE, UniProtKB/TrEMBL |
| ENSP00000362389 | UniProtKB/TrEMBL | |
| ENSP00000375836 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000375837 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000387782 | UniProtKB/TrEMBL | |
| ENSP00000388876 | UniProtKB/TrEMBL | |
| ENSP00000390290 | UniProtKB/TrEMBL | |
| ENSP00000390942 | UniProtKB/TrEMBL | |
| ENSP00000391773 | UniProtKB/TrEMBL | |
| ENSP00000393766 | UniProtKB/TrEMBL | |
| ENSP00000394205 | UniProtKB/TrEMBL | |
| ENSP00000396202 | UniProtKB/TrEMBL | |
| ENSP00000396959 | UniProtKB/TrEMBL | |
| ENSP00000396964 | UniProtKB/TrEMBL | |
| ENSP00000397799 | UniProtKB/TrEMBL | |
| ENSP00000399139 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000403693 | UniProtKB/TrEMBL | |
| ENSP00000403807 | UniProtKB/TrEMBL | |
| ENSP00000403913 | UniProtKB/TrEMBL | |
| ENSP00000405109 | UniProtKB/TrEMBL | |
| ENSP00000405180 | UniProtKB/TrEMBL | |
| ENSP00000408582 | UniProtKB/TrEMBL | |
| ENSP00000409868 | UniProtKB/TrEMBL | |
| ENSP00000411211 | UniProtKB/TrEMBL | |
| ENSP00000413805 | UniProtKB/TrEMBL | |
| ENSP00000413891 | UniProtKB/TrEMBL | |
| ENSP00000416559 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000310931 | ENTREZGENE, UniProtKB/TrEMBL |
| ENST00000373292 | UniProtKB/TrEMBL | |
| ENST00000391975 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000391976 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000413241 | UniProtKB/TrEMBL | |
| ENST00000417540 | UniProtKB/TrEMBL | |
| ENST00000420451 | UniProtKB/TrEMBL | |
| ENST00000422080 | UniProtKB/TrEMBL | |
| ENST00000422933 | UniProtKB/TrEMBL | |
| ENST00000423693 | UniProtKB/TrEMBL | |
| ENST00000425989 | UniProtKB/TrEMBL | |
| ENST00000426343 | UniProtKB/TrEMBL | |
| ENST00000427007 | UniProtKB/TrEMBL | |
| ENST00000427183 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000427487 | UniProtKB/TrEMBL | |
| ENST00000428482 | UniProtKB/TrEMBL | |
| ENST00000430918 | UniProtKB/TrEMBL | |
| ENST00000441124 | UniProtKB/TrEMBL | |
| ENST00000442714 | UniProtKB/TrEMBL | |
| ENST00000442730 | UniProtKB/TrEMBL | |
| ENST00000444092 | UniProtKB/TrEMBL | |
| ENST00000449504 | UniProtKB/TrEMBL | |
| ENST00000449864 | UniProtKB/TrEMBL | |
| ENST00000452065 | UniProtKB/TrEMBL | |
| ENST00000452931 | UniProtKB/TrEMBL | |
| ENST00000453141 | UniProtKB/TrEMBL | |
| ENST00000458564 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 3.30.1370.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000115677 | GTEx |
| HGNC ID | HGNC:4857 | ENTREZGENE |
| Human Proteome Map | HDLBP | Human Proteome Map |
| InterPro | KH_dom | UniProtKB/Swiss-Prot |
| KH_dom_type_1 | UniProtKB/Swiss-Prot | |
| KH_dom_type_1_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:3069 | UniProtKB/Swiss-Prot |
| NCBI Gene | 3069 | ENTREZGENE |
| OMIM | 142695 | OMIM |
| Pfam | KH_1 | UniProtKB/Swiss-Prot |
| PharmGKB | PA29235 | PharmGKB |
| PROSITE | KH_TYPE_1 | UniProtKB/Swiss-Prot |
| SMART | SM00322 | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF54791 | UniProtKB/Swiss-Prot |
| UniGene | Hs.471851 | ENTREZGENE |
| Hs.732361 | ENTREZGENE | |
| UniProt | A0A024R4E5 | ENTREZGENE, UniProtKB/TrEMBL |
| B2R5V9 | ENTREZGENE, UniProtKB/TrEMBL | |
| C9J5E5_HUMAN | UniProtKB/TrEMBL | |
| C9J739_HUMAN | UniProtKB/TrEMBL | |
| C9JB08_HUMAN | UniProtKB/TrEMBL | |
| C9JBS3_HUMAN | UniProtKB/TrEMBL | |
| C9JE93_HUMAN | UniProtKB/TrEMBL | |
| C9JEJ8_HUMAN | UniProtKB/TrEMBL | |
| C9JES8_HUMAN | UniProtKB/TrEMBL | |
| C9JHN6_HUMAN | UniProtKB/TrEMBL | |
| C9JHS7_HUMAN | UniProtKB/TrEMBL | |
| C9JHS9_HUMAN | UniProtKB/TrEMBL | |
| C9JHZ8_HUMAN | UniProtKB/TrEMBL | |
| C9JIZ1_HUMAN | UniProtKB/TrEMBL | |
| C9JK79_HUMAN | UniProtKB/TrEMBL | |
| C9JMQ6_HUMAN | UniProtKB/TrEMBL | |
| C9JQ82_HUMAN | UniProtKB/TrEMBL | |
| C9JT62_HUMAN | UniProtKB/TrEMBL | |
| C9JZI8_HUMAN | UniProtKB/TrEMBL | |
| H0Y394_HUMAN | UniProtKB/TrEMBL | |
| H7BZC3_HUMAN | UniProtKB/TrEMBL | |
| H7C0A4_HUMAN | UniProtKB/TrEMBL | |
| H7C2D1_HUMAN | UniProtKB/TrEMBL | |
| H7C3D0_HUMAN | UniProtKB/TrEMBL | |
| L8ECQ0_HUMAN | UniProtKB/TrEMBL | |
| Q00341 | ENTREZGENE | |
| Q2HJC8_HUMAN | UniProtKB/TrEMBL | |
| Q96CF6_HUMAN | UniProtKB/TrEMBL | |
| VIGLN_HUMAN | UniProtKB/Swiss-Prot | |
| UniProt Secondary | A0A088AWM1 | UniProtKB/TrEMBL |
| A0A0E3D6N3 | UniProtKB/TrEMBL | |
| A0A0U1RVI6 | UniProtKB/TrEMBL | |
| B4DTQ2 | UniProtKB/Swiss-Prot | |
| C9JKQ5 | UniProtKB/TrEMBL | |
| E7EM71 | UniProtKB/Swiss-Prot | |
| Q53QU2 | UniProtKB/Swiss-Prot | |
| Q9UCY3 | UniProtKB/Swiss-Prot |
 |
| More on HDLBP | |
|
Alliance Gene |
|
NCBI Gene |
|
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: | 732166 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
