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

Variant : CV598302 (GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1) Homo sapiens

Symbol: CV598302
Name: GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1
Condition: not provided [RCV000743602]
Clinical Significance: pathogenic
Last Evaluated: 05/11/2011
Review Status: no assertion criteria provided
Related Genes: ADGRL3   AMBN   AMTN   CABS1   CENPC   CSN1S1   CSN2   CSN3   ENAM   EPHA5   FDCSP   GNRHR   HTN1   HTN3   JCHAIN   MUC7   ODAM   OPRPN   PRR27   RUFY3   SMR3A   SMR3B   STAP1   STATH   SULT1B1   SULT1E1   TECRL   TMPRSS11A   TMPRSS11B   TMPRSS11D   TMPRSS11E   TMPRSS11F   UBA6   UGT2A1   UGT2A2   UGT2A3   UGT2B10   UGT2B11   UGT2B15   UGT2B17   UGT2B28   UGT2B4   UGT2B7   UTP3   YTHDC1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37458,332,294 - 71,587,615CLINVAR
Cytogenetic Map44q12-13.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14358973
Created: 2019-02-12
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.