Variants
SCN3A variants
The 2 SCN3A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| F195Lfs*54 | c.585_586del | Exon 6 | 165,164,407 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I875T | c.2624T>C | Exon 17 | 165,130,238 | Pathogenic | 3 stars out of 4 reviewed by expert panel |