T44I (p.Thr44Ile) variant of TSC1 (Hamartin)
T44I (p.Thr44Ile) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- Ensembl rs2132269822
- Missense
- Structural context available