Q55H (p.Gln55His) variant of TSC1 (Hamartin)
Q55H (p.Gln55His) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
Q55H (p.Gln55His) variant details
- p.Gln55His
- Ensembl rs2132267841
- Missense
- Structural context available