S5A (p.Ser5Ala) variant of SMN1 (Survival motor neuron protein)
S5A (p.Ser5Ala) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- rs2532099835
- ClinVar RCV004576116
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)