L10H (p.Leu10His) variant of TSC1 (Hamartin)
L10H (p.Leu10His) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
L10H (p.Leu10His) variant details
- p.Leu10His
- Ensembl rs1588363616
- Missense
- Structural context available