D47Y (p.Asp47Tyr) variant of TSC1 (Hamartin)
D47Y (p.Asp47Tyr) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The record also includes structural context.
D47Y (p.Asp47Tyr) variant details
- p.Asp47Tyr
- Ensembl rs2132269163
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- UniProt: Uncertain significance
- Structural context available