Y65* (p.Tyr65Ter) variant of SCN1A (Nav1.1)
Y65* (p.Tyr65Ter) in SCN1A (Nav1.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y65* (p.Tyr65Ter) variant details
- p.Tyr65Ter
- rs1684672231
- ClinGen CA349242852
- ClinVar RCV002250326
- TOPMed rs1684672231
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)