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Variant : CV155764 (GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3) Homo sapiens

Symbol: CV155764
Name: GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3
Condition: See cases [RCV000135339]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDOA   ASPHD1   BCKDK   BCL7C   BOLA2B   C16orf92   CCDC189   CD2BP2   CD2BP2-DT   CORO1A   COX6A2   CTF1   DCTPP1   DOC2A   FBRS   FBXL19   FBXL19-AS1   FUS   GDPD3   HIRIP3   HSD3B7   INO80E   ITGAD   ITGAL   ITGAM   ITGAX   KAT8   KCTD13   MAPK3   MIR4518   MIR4519   MIR762   MIR762HG   MYLPF   NPIPB13   ORAI3   PHKG2   PPP4C   PRR14   PRSS36   PRSS53   PRSS8   PYCARD   PYCARD-AS1   PYDC1   RNF40   SEPHS2   SEPTIN1   SETD1A   SLX1A   SLX1A-SULT1A3   SNORA30   SNORA80C   SRCAP   STX1B   STX4   SULT1A3   TAOK2   TBC1D10B   TBX6   TLCD3B   TMEM219   TMEM265   TRIM72   VKORC1   YPEL3   ZNF48   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF747   ZNF764   ZNF768   ZNF771   ZNF785   ZNF843  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_29909613)_(31438697_?)dup
NC_000016.9:g.(?_29920934)_(31450018_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,909,613 - 31,438,697CLINVAR
GRCh371629,920,934 - 31,450,018CLINVAR
Build 361629,828,435 - 31,357,519CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482912
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.