E47* (p.Glu47Ter) variant of SCN2A (Nav1.2)
E47* (p.Glu47Ter) in SCN2A (Nav1.2) is a protein-truncating change. The record also includes structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- Ensembl rs1553564206
- Stop Gained
- Structural context available