Variants
KCNQ4 variants
The 3 KCNQ4 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 |
|---|---|---|---|---|---|
| G285S | c.853G>A | Exon 6 | 40,819,893 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S269del | c.806_808del | Exon 5 | 40,819,438 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W275C | c.825G>C | Exon 5 | 40,819,463 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |