E49* (p.Glu49Ter) variant of SCN8A (Nav1.6)
E49* (p.Glu49Ter) in SCN8A (Nav1.6) is a protein-truncating change. The record also includes structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- Ensembl rs1555214290
- Stop Gained
- Structural context available