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Variant : CV653392 (NC_000023.10:g.(?_32536115)_(32632580_?)dup) Homo sapiens

Symbol: CV653392
Name: NC_000023.10:g.(?_32536115)_(32632580_?)dup
Condition: Duchenne muscular dystrophy [RCV000800681]
Clinical Significance: likely pathogenic
Last Evaluated: 12/31/2018
Review Status: criteria provided, single submitter
Related Genes: DMD   MIR3915  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_32536115)_(32632580_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X32,517,998 - 32,614,463CLINVAR
GRCh37X32,536,115 - 32,632,580CLINVAR
Cytogenetic MapXXp21.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14715555
Created: 2019-09-06
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.