H59D (p.His59Asp) variant of TSC1 (Hamartin)
H59D (p.His59Asp) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H59D (p.His59Asp) variant details
- p.His59Asp
- Ensembl rs2132267151
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available