G58* (p.Gly58Ter) variant of SCN1A (Nav1.1)
G58* (p.Gly58Ter) in SCN1A (Nav1.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRVT. The record also includes structural context.
G58* (p.Gly58Ter) variant details
- p.Gly58Ter
- Ensembl rs1553560785
- Pathogenic
- in DRVT
- Stop Gained
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available