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Variant : CV404399 (NC_000023.10:g.(?_31137345)_(33229673_?)del) Homo sapiens

Symbol: CV404399
Name: NC_000023.10:g.(?_31137345)_(33229673_?)del
Condition: Duchenne muscular dystrophy [RCV000475816]
Clinical Significance: pathogenic
Last Evaluated: 08/02/2016
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.(?_31137345)_(33229673_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X31,119,228 - 33,211,556CLINVAR
GRCh37X31,137,345 - 33,229,673CLINVAR
Cytogenetic MapXXp21.2-21.1CLINVAR
Trait Synonyms: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Age Of Onset: childhood
Prevalence: 1-9 / 100 000

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12891037
Created: 2017-05-09
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.