G33C (p.Gly33Cys) variant of TSC2 (Tuberin)
G33C (p.Gly33Cys) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- ExAC rs370230541
- TOPMed rs370230541
- gnomAD rs370230541
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available