L33H (p.Leu33His) variant of TSC1 (Hamartin)
L33H (p.Leu33His) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
L33H (p.Leu33His) variant details
- p.Leu33His
- Ensembl rs2132293706
- Missense
- Structural context available