F41V (p.Phe41Val) variant of DMD (Dystrophin)
F41V (p.Phe41Val) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Duchenne muscular dystrophy. The record also includes published literature and structural context.
F41V (p.Phe41Val) variant details
- p.Phe41Val
- rs2524951724
- ClinGen CA412674946
- ClinVar RCV003089283
- ClinVar RCV004779426
- Uncertain significance
- not provided; Duchenne muscular dystrophy
- Missense
- ClinVar: Uncertain significance (not provided; 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)