R19* (p.Arg19Ter) variant of SCN1A (Nav1.1)
R19* (p.Arg19Ter) in SCN1A (Nav1.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- gnomAD rs796053096
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available