Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV247793 (GRCh37/hg19 17q22(chr17:55916829-56770618)x1) Homo sapiens

Symbol: CV247793
Name: GRCh37/hg19 17q22(chr17:55916829-56770618)x1
Condition: See cases [RCV000239996]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CUEDC1   DYNLL2   EPX   HSF5   LPO   MKS1   MPO   MRPS23   MTMR4   OR4D1   OR4D2   RAD51C   RNF43   SEPTIN4   SRSF1   SUPT4H1   TEX14   TSPOAP1   VEZF1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371755,916,829 - 56,770,618CLINVAR
Cytogenetic Map1717q22CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541467
Created: 2016-10-11
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.