Y49N (p.Tyr49Asn) variant of TSC1 (Hamartin)
Y49N (p.Tyr49Asn) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
Y49N (p.Tyr49Asn) variant details
- p.Tyr49Asn
- TOPMed rs1407267988
- Missense
- Structural context available