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Variant : CV262414 (NC_000023.10:g.(?_31191650)_(33229435_?)dup) Homo sapiens

Symbol: CV262414
Name: NC_000023.10:g.(?_31191650)_(33229435_?)dup
Condition: Duchenne muscular dystrophy [RCV000258059]
Clinical Significance: uncertain significance
Last Evaluated: 01/06/2016
Review Status: criteria provided, single submitter
Related Genes: DMD   MIR3915   MIR548F5  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_31191650)_(33229435_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X31,173,533 - 33,211,318CLINVAR
GRCh37X31,191,650 - 33,229,435CLINVAR
Cytogenetic MapXXp21.2-21.1CLINVAR
Age Of Onset: childhood
Prevalence: 1-9 / 100 000

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 11560478
Created: 2016-11-08
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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