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Variant : CV160264 (GRCh38/hg38 16p13.3(chr16:412341-925326)x3) Homo sapiens

Symbol: CV160264
Name: GRCh38/hg38 16p13.3(chr16:412341-925326)x3
Condition: See cases [RCV000139354]
Clinical Significance: uncertain significance
Last Evaluated: 05/07/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ANTKMT   CAPN15   CCDC78   CHTF18   CIAO3   DECR2   FBXL16   GNG13   HAGHL   JMJD8   LINC00235   LMF1   LMF1-AS1   MCRIP2   METRN   METTL26   MIR3176   MIR5587   MIR662   MSLN   NHLRC4   PIGQ   PRR25   PRR35   RAB11FIP3   RAB40C   RHBDL1   RHOT2   RPUSD1   STUB1   TRG-CCC2-2   WDR24   WDR90   WFIKKN1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_412341)_(925326_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3816412,341 - 925,326CLINVAR
GRCh3716462,341 - 975,326CLINVAR
Build 3616402,342 - 915,327CLINVAR
Cytogenetic Map1616p13.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9486885
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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