I33* (p.Ile33Ter) variant of SMN1 (Survival motor neuron protein)
I33* (p.Ile33Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
I33* (p.Ile33Ter) variant details
- p.Ile33Ter
- rs1554081950
- Ensembl rs1554081950
- ClinGen CA658657450
- ClinVar RCV000516576
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic