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Variant : CV383764 (GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4) Homo sapiens

Symbol: CV383764
Name: GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4
Condition: See cases [RCV000447708]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AHSP   ARMC5   BCKDK   BCL7C   C16orf58   COX6A2   CTF1   FBXL19   FUS   HSD3B7   ITGAD   ITGAM   ITGAX   KAT8   ORAI3   PRSS36   PRSS53   PRSS8   PYCARD   PYDC1   SETD1A   SLC5A2   STX1B   STX4   TGFB1I1   TRIM72   VKORC1   ZNF646   ZNF668   ZNF720   ZNF843  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371630,830,287 - 31,827,011CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852421
Created: 2017-04-11
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.