G47E (p.Gly47Glu) variant of DMD (Dystrophin)
G47E (p.Gly47Glu) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- Ensembl rs398123860
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available