G106V (p.Gly106Val) variant of SMN1 (Survival motor neuron protein)
G106V (p.Gly106Val) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
G106V (p.Gly106Val) variant details
- p.Gly106Val
- rs2532112549
- ClinGen CA360093805
- ClinVar RCV003491531
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance