G275C (p.Gly275Cys) variant of SMN1 (Survival motor neuron protein)
G275C (p.Gly275Cys) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes structural context.
G275C (p.Gly275Cys) variant details
- p.Gly275Cys
- Ensembl rs1580728940
- Missense
- Structural context available