E78* (p.Glu78Ter) variant of SCN1A (Nav1.1)
E78* (p.Glu78Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
E78* (p.Glu78Ter) variant details
- p.Glu78Ter
- Ensembl rs1553560710
- Stop Gained
- Structural context available