E56* (p.Glu56Ter) variant of SCN1A (Nav1.1)
E56* (p.Glu56Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- Ensembl rs1553560788
- Stop Gained
- Structural context available