Y276C (p.Tyr276Cys) variant of SMN1 (Survival motor neuron protein)
Y276C (p.Tyr276Cys) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Werdnig-Hoffmann disease. The record also includes published literature and structural context.
Y276C (p.Tyr276Cys) variant details
- p.Tyr276Cys
- rs2532126706
- ClinVar RCV004576184
- Pathogenic
- Werdnig-Hoffmann disease
- Missense
- ClinVar: Pathogenic (Werdnig-Hoffmann disease)
- 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)