E20* (p.Glu20Ter) variant of SCN1A (Nav1.1)
E20* (p.Glu20Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- cosmic curated COSV10032
- Ensembl rs1553560946
- Stop Gained
- Structural context available