Q157* (p.Gln157Ter) variant of SMN1 (Survival motor neuron protein)
Q157* (p.Gln157Ter) 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.
Q157* (p.Gln157Ter) variant details
- p.Gln157Ter
- rs1580886973
- Ensembl rs1580886973
- ClinGen CA360094883
- ClinVar RCV000993025
- 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)