W24R (p.Trp24Arg) variant of DMD (Dystrophin)
W24R (p.Trp24Arg) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The record also includes published literature and structural context.
W24R (p.Trp24Arg) variant details
- p.Trp24Arg
- rs2527804930
- ClinGen CA412675262
- ClinVar RCV003153118
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)