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Variant : CV156035 (GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1) Homo sapiens

Symbol: CV156035
Name: GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1
Condition: See cases [RCV000135589]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2B   C16orf54   C16orf92   CD2BP2   CD2BP2-DT   CDIPT   CDIPTOSP   CORO1A   DCTPP1   DOC2A   FBRS   GDPD3   HIRIP3   INO80E   ITGAL   KCTD13   KIF22   LOC101928595   LOC112352679   LOC112352680   LOC112352681   LOC112441444   LOC112441445   LOC116276452   MAPK3   MAZ   MIR3680-2   MIR4518   MVP   MYLPF   NPIPB13   PAGR1   PPP4C   PRR14   PRRT2   QPRT   SEPHS2   SEPTIN1   SEZ6L2   SLX1A   SLX1A-SULT1A3   SNORA80C   SPN   SULT1A3   TAOK2   TBC1D10B   TBX6   TLCD3B   TMEM219   YPEL3   ZG16   ZNF48   ZNF688   ZNF689   ZNF747   ZNF764   ZNF768   ZNF771   ZNF785  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29581462)_(30691912_?)del
NC_000016.9:g.(?_29592783)_(30703233_?)del
NC_000016.8:g.(?_29500284)_(30610734_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,581,462 - 30,691,912CLINVAR
GRCh371629,592,783 - 30,703,233CLINVAR
Build 361629,500,284 - 30,610,734CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483161
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.