Q3* (p.Gln3Ter) variant of SCN2A (Q99250)
Q3* (p.Gln3Ter) in SCN2A (Q99250) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- rs1553564141
- ClinGen CA349009632
- ClinVar RCV001236295
- Ensembl rs1553564141
- 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)