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

Variant : CV653366 (NC_000023.10:g.(?_32490261)_(32669194_?)del) Homo sapiens

Symbol: CV653366
Name: NC_000023.10:g.(?_32490261)_(32669194_?)del
Condition: Duchenne muscular dystrophy [RCV000801985]
Clinical Significance: pathogenic
Last Evaluated: 08/24/2018
Review Status: criteria provided, single submitter
Related Genes: DMD   MIR3915   MIR548F5  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_32490261)_(32669194_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X32,472,144 - 32,651,077CLINVAR
GRCh37X32,490,261 - 32,669,194CLINVAR
Cytogenetic MapXXp21.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14715922
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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