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Variant : CV161251 (GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1) Homo sapiens

Symbol: CV161251
Name: GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1
Condition: See cases [RCV000140211]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC182   CLTC   CUEDC1   DHX40   DYNLL2   EPX   GDPD1   HSF5   LINC01476   LPO   MIR142   MIR301A   MIR454   MIR4729   MIR4736   MKS1   MPO   MRPS23   MSI2   MTMR4   OR4D1   OR4D2   PPM1E   PRR11   PTRH2   RAD51C   RNF43   SEPTIN4   SEPTIN4-AS1   SKA2   SMG8   SRSF1   SUPT4H1   TEX14   TRIM37   TSPOAP1   TSPOAP1-AS1   VEZF1   VMP1   YPEL2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_57418806)_(59735464_?)del
Human AssemblyChrPosition (strand)Source
GRCh381757,418,806 - 59,735,464CLINVAR
GRCh371755,496,167 - 57,812,825CLINVAR
Build 361752,851,166 - 55,167,607CLINVAR
Cytogenetic Map1717q22-23.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 9487741
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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