Variants
SCN1A variants
The 12 SCN1A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A420V | c.1259C>T | Exon 12 | 166,046,888 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G908R | c.2722G>C | Exon 18 | 166,038,000 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P768L | c.2303C>T | Exon 16 | 166,041,343 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P1838Lfs*20 | c.5511del | Exon 29 | 165,991,763 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R219G | c.655A>G | Exon 8 | 166,052,891 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R219T | c.656G>C | Exon 8 | 166,052,890 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R931H | c.2792G>A | Exon 18 | 166,037,930 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1639P | c.4916G>C | Exon 29 | 165,992,359 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S570N | c.1709G>A | Exon 14 | 166,044,003 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1210M | c.3629C>T | Exon 21 | 166,013,820 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1637A | c.4910T>C | Exon 29 | 165,992,365 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1637E | c.4910T>A | Exon 29 | 165,992,365 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |