D46N (p.Asp46Asn) variant of DMD (Dystrophin)
D46N (p.Asp46Asn) 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.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- Ensembl rs1603448417
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- UniProt: Uncertain significance
- Structural context available