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Variant : CV383814 (GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1) Homo sapiens

Symbol: CV383814
Name: GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1
Condition: See cases [RCV000445999]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADHFE1   ARFGEF1   ARMC1   BHLHE22   C8orf44   C8orf44-SGK3   COPS5   CPA6   CRH   CSPP1   CYP7B1   DNAJC5B   MCMDC2   MTFR1   MYBL1   PDE7A   PPP1R42   RRS1   SGK3   SNHG6   SNORD87   TCF24   TRIM55   VCPIP1   VXN  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37865,194,424 - 68,570,319CLINVAR
Cytogenetic Map88q12.3-13.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850728
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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