E75* (p.Glu75Ter) variant of SCN1A (Nav1.1)
E75* (p.Glu75Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
E75* (p.Glu75Ter) variant details
- p.Glu75Ter
- Ensembl rs1553560731
- Stop Gained
- Structural context available