G38R (p.Gly38Arg) variant of TSC1 (Hamartin)
G38R (p.Gly38Arg) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis 1. The record also includes structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- TOPMed rs1846929239
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available