Q90* (p.Gln90Ter) variant of SMN1 (Survival motor neuron protein)
Q90* (p.Gln90Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
Q90* (p.Gln90Ter) variant details
- p.Gln90Ter
- rs2532112318
- cosmic curated COSV66314
- ClinGen CA360093167
- ClinVar RCV003445470
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)