L228* (p.Leu228Ter) variant of SMN1 (Survival motor neuron protein)
L228* (p.Leu228Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
L228* (p.Leu228Ter) variant details
- p.Leu228Ter
- rs79784540
- Ensembl rs79784540
- ClinGen CA16044072
- ClinVar RCV000516476
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic