Y49H (p.Tyr49His) variant of TSC1 (Hamartin)
Y49H (p.Tyr49His) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
Y49H (p.Tyr49His) variant details
- p.Tyr49His
- TOPMed rs1407267988
- Missense
- Structural context available