E52* (p.Glu52Ter) variant of SCN1B (Q07699)
E52* (p.Glu52Ter) in SCN1B (Q07699) is a protein-truncating change. The record also includes structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- Ensembl rs1555720609
- Stop Gained
- Structural context available