Y109* (p.Tyr109Ter) variant of SCN1A (P35498)
Y109* (p.Tyr109Ter) in SCN1A (P35498) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y109* (p.Tyr109Ter) variant details
- p.Tyr109Ter
- rs1553553485
- ClinGen CA349077040
- ClinVar RCV000504593
- Ensembl rs1553553485
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available