G8C (p.Gly8Cys) variant of IDH1 (O75874)
G8C (p.Gly8Cys) in IDH1 (O75874) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- 1000Genomes rs369048275
- ESP rs369048275
- ExAC rs369048275
- TOPMed rs369048275
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available