Y48H (p.Tyr48His) variant of TSC1 (Hamartin)
Y48H (p.Tyr48His) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
Y48H (p.Tyr48His) variant details
- p.Tyr48His
- cosmic curated COSV53774
- Missense
- Structural context available