F280C (p.Phe280Cys) variant of SMN1 (Survival motor neuron protein)
F280C (p.Phe280Cys) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
F280C (p.Phe280Cys) variant details
- p.Phe280Cys
- TOPMed rs1749771553
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available