A75T (p.Ala75Thr) variant of SMN1 (Survival motor neuron protein)
A75T (p.Ala75Thr) 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.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- rs2532112257
- ClinGen CA360092835
- ClinVar RCV002475294
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance