Q154* (p.Gln154Ter) variant of SMN1 (Survival motor neuron protein)
Q154* (p.Gln154Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic.
Q154* (p.Gln154Ter) variant details
- p.Gln154Ter
- rs1561499692
- Ensembl rs1561499692
- ClinGen CA360094801
- ClinVar RCV000713370
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic