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Variant : CV404033 (NC_000023.10:g.(?_32583819)_(32632570_?)dup) Homo sapiens

Symbol: CV404033
Name: NC_000023.10:g.(?_32583819)_(32632570_?)dup
Condition: Duchenne muscular dystrophy [RCV000466903]
Clinical Significance: pathogenic
Last Evaluated: 10/09/2016
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.(?_32583819)_(32632570_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X32,565,702 - 32,614,453CLINVAR
GRCh37X32,583,819 - 32,632,570CLINVAR
Cytogenetic MapXXp21.1CLINVAR
Age Of Onset: childhood
Prevalence: 1-9 / 100 000

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12886264
Created: 2017-05-09
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.