W190* (p.Trp190Ter) variant of SMN1 (Survival motor neuron protein)
W190* (p.Trp190Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
W190* (p.Trp190Ter) variant details
- p.Trp190Ter
- rs1561499737
- ClinGen CA360095544
- ClinVar RCV000785801
- Ensembl rs1561499737
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic