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Variant : CV673709 (GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1) Homo sapiens

Symbol: CV673709
Name: GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1
Condition: not provided [RCV000846825]
Clinical Significance: pathogenic
Last Evaluated: 05/31/2017
Review Status: no assertion criteria provided
Related Genes: ADHFE1   ARMC1   BHLHE22   C8orf44   C8orf44-SGK3   CRH   CYP7B1   DNAJC5B   MTFR1   MYBL1   PDE7A   RRS1   SGK3   TRIM55   VCPIP1   VXN  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37865,280,508 - 67,782,846CLINVAR
Cytogenetic Map88q12.3-13.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14977405
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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