E46* (p.Glu46Ter) variant of SCN4A (Nav1.4)
E46* (p.Glu46Ter) in SCN4A (Nav1.4) is a protein-truncating change. The record also includes structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- Ensembl rs1555605080
- Stop Gained
- Structural context available