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

Variant : CV382962 (GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1) Homo sapiens

Symbol: CV382962
Name: GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1
Condition: See cases [RCV000447112]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AC034199.1   ATP6V0E1   BNIP1   C5orf58   CREBRF   DOCK2   DUSP1   EFCAB9   ERGIC1   FBXW11   FGF18   FOXI1   GABRP   INSYN2B   KCNIP1   KCNMB1   LCP2   LOC100288254   MIR103A1   NEURL1B   NKX2-5   NPM1   PANK3   RANBP17   RARS1   RPL26L1   SH3PXD2B   SLIT3   SMIM23   SNORA74B   SPDL1   STC2   STK10   TENM2   TLX3   UBTD2   WWC1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh375164,207,156 - 172,799,124CLINVAR
Cytogenetic Map55q34-35.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851830
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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