Y83* (p.Tyr83Ter) variant of SCN1A (P35498)
Y83* (p.Tyr83Ter) in SCN1A (P35498) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y83* (p.Tyr83Ter) variant details
- p.Tyr83Ter
- rs863225031
- ClinGen CA325464
- ClinVar RCV000201161
- ClinVar RCV006555663
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)