H72Y (p.His72Tyr) variant of DMD (Dystrophin)
H72Y (p.His72Tyr) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The record also includes structural context.
H72Y (p.His72Tyr) variant details
- p.His72Tyr
- Ensembl rs2080509914
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- UniProt: Uncertain significance
- Structural context available