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Variant : CV154080 (GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3) Homo sapiens

Symbol: CV154080
Name: GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3
Condition: See cases [RCV000133811]
Clinical Significance: pathogenic
Last Evaluated: 12/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AHSP   ARMC5   BCKDK   BCL7C   C16orf58   CCDC189   CCNYL3   COX6A2   CTF1   FBXL19   FBXL19-AS1   FUS   HSD3B7   IGHV3OR16-8   ITGAD   ITGAM   ITGAX   KAT8   LINC00273   LINC01566   LINC02167   LINC02190   MIR4519   MIR762   MIR762HG   MIR9901   ORAI3   PHKG2   PRSS36   PRSS53   PRSS8   PYCARD   PYCARD-AS1   PYDC1   RNF40   SETD1A   SLC5A2   SNORA30   SRCAP   STX1B   STX4   TGFB1I1   TMEM265   TP53TG3   TP53TG3B   TP53TG3C   TP53TG3D   TP53TG3E   TP53TG3F   TRIM72   VKORC1   VN1R3   ZNF267   ZNF629   ZNF646   ZNF668   ZNF720   ZNF843  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_30691912)_(36160463_?)dup
NC_000016.9:g.(?_30703233)_(35147508_?)dup
NC_000016.8:g.(?_30610734)_(35005009_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381630,691,912 - 36,160,463 (+)CLINVAR
GRCh371630,703,233 - 35,147,508CLINVAR
Build 361630,610,734 - 35,005,009CLINVAR
Cytogenetic Map1616p11.2-11.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481396
Created: 2014-09-09
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.