E9G (p.Glu9Gly) variant of TSC1 (Hamartin)
E9G (p.Glu9Gly) 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.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- TOPMed rs1431850441
- Uncertain significance
- Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (Tuberous sclerosis 1)
- UniProt: Uncertain significance
- Structural context available