Y84* (p.Tyr84Ter) variant of SCN1A (P35498)
Y84* (p.Tyr84Ter) in SCN1A (P35498) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRVT. The record also includes structural context.
Y84* (p.Tyr84Ter) variant details
- p.Tyr84Ter
- rs2105982029
- ClinGen CA349242651
- ClinVar RCV001388200
- ClinVar RCV003311984
- Pathogenic
- in DRVT
- Stop Gained
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available