Q47* (p.Gln47Ter) variant of SCN10A (Nav1.8)
Q47* (p.Gln47Ter) in SCN10A (Nav1.8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs2064317968
- ClinGen CA352162999
- ClinVar RCV002389208
- TOPMed rs2064317968
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available