A5V (p.Ala5Val) variant of TSC1 (Hamartin)
A5V (p.Ala5Val) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- Ensembl rs2132297110
- Missense
- Structural context available
A5V (p.Ala5Val) in TSC1 (Hamartin) is a missense change. The record also includes structural context.