Q15* (p.Gln15Ter) variant of SMN1 (Survival motor neuron protein)
Q15* (p.Gln15Ter) 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 structural context.
Q15* (p.Gln15Ter) variant details
- p.Gln15Ter
- rs79310136
- ClinGen CA360089657
- ClinVar RCV003482884
- Ensembl rs79310136
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available