W267* (p.Trp267Ter) variant of SMN1 (Survival motor neuron protein)
W267* (p.Trp267Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
W267* (p.Trp267Ter) variant details
- p.Trp267Ter
- rs2532126489
- ClinGen CA360097099
- ClinVar RCV003237288
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)