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Variant : CV381160 (GRCh37/hg19 17q22(chr17:52189051-57477162)x3) Homo sapiens

Symbol: CV381160
Name: GRCh37/hg19 17q22(chr17:52189051-57477162)x3
Condition: See cases [RCV000448801]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AKAP1   ANKFN1   C17orf67   COIL   COX11   CUEDC1   DGKE   DYNLL2   EPX   GDPD1   HLF   HSF5   LPO   MKS1   MMD   MPO   MRPS23   MSI2   MTMR4   NOG   OR4D1   OR4D2   PCTP   PPM1E   PRR11   RAD51C   RNF43   SCPEP1   SEPTIN4   SKA2   SMG8   SRSF1   STXBP4   SUPT4H1   TEX14   TMEM100   TOM1L1   TRIM25   TRIM37   TSPOAP1   VEZF1   YPEL2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371752,189,051 - 57,477,162CLINVAR
Cytogenetic Map1717q22CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12853501
Created: 2017-04-11
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.