T52A (p.Thr52Ala) variant of TSC1 (Hamartin)
T52A (p.Thr52Ala) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- cosmic curated COSV53775
- Ensembl rs2132268402
- Missense
- Structural context available