V46M (p.Val46Met) variant of TSC1 (Hamartin)
V46M (p.Val46Met) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- Ensembl rs2132269410
- Missense
- Structural context available