D47H (p.Asp47His) variant of TSC1 (Hamartin)
D47H (p.Asp47His) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- Ensembl rs2132269163
- Missense
- Structural context available