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Variant : CV383545 (GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3) Homo sapiens

Symbol: CV383545
Name: GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3
Condition: See cases [RCV000445710]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ATP6V1H   CHCHD7   LYN   LYPLA1   MOS   MRPL15   PENK   PLAG1   RGS20   RP1   RPS20   SDR16C5   SOX17   TCEA1   TGS1   TMEM68   XKR4  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37854,661,151 - 57,790,737CLINVAR
Cytogenetic Map88q11.23-12.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850444
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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