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

Variant : CV534558 (NC_000023.10:g.(?_32456338)_(32632590_?)del) Homo sapiens

Symbol: CV534558
Name: NC_000023.10:g.(?_32456338)_(32632590_?)del
Condition: Duchenne muscular dystrophy [RCV000630671]
Clinical Significance: pathogenic
Last Evaluated: 11/03/2017
Review Status: criteria provided, single submitter
Related Genes: DMD   MIR3915  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_32456338)_(32632590_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X32,438,221 - 32,614,473CLINVAR
GRCh37X32,456,338 - 32,632,590CLINVAR
Cytogenetic MapXXp21.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13612254
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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