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Variant : CV573464 (NC_000023.10:g.(?_32235013)_(32867957_?)del) Homo sapiens

Symbol: CV573464
Name: NC_000023.10:g.(?_32235013)_(32867957_?)del
Condition: Duchenne muscular dystrophy [RCV000708476]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2018
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.(?_32235013)_(32867957_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X32,216,896 - 32,849,840CLINVAR
GRCh37X32,235,013 - 32,867,957CLINVAR
Cytogenetic MapXXp21.1CLINVAR
Trait Synonyms: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13819649
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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