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Variant : CV573468 (NC_000023.10:g.(?_32380885)_(32717430_?)del) Homo sapiens

Symbol: CV573468
Name: NC_000023.10:g.(?_32380885)_(32717430_?)del
Condition: Duchenne muscular dystrophy [RCV000708082]
Clinical Significance: pathogenic
Last Evaluated: 06/05/2018
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.(?_32380885)_(32717430_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X32,362,768 - 32,699,313CLINVAR
GRCh37X32,380,885 - 32,717,430CLINVAR
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: 13819069
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.