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Variant : CV436797 (GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1) Homo sapiens

Symbol: CV436797
Name: GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1
Condition: See cases [RCV000511906]
Clinical Significance: likely pathogenic
Last Evaluated: 03/05/2015
Review Status: no assertion criteria provided
Related Genes: BCKDK   FBXL19   HSD3B7   KAT8   ORAI3   PRSS36   PRSS53   PRSS8   SETD1A   STX1B   STX4   VKORC1   ZNF646   ZNF668  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371630,952,806 - 31,177,641CLINVAR
Cytogenetic Map1616p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444875
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-14
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.