Variants
PRKAG2 variants
The 2 PRKAG2 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 |
|---|---|---|---|---|---|
| R302Q | c.905G>A | Exon 7 | 151,576,412 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R531Q | c.1592G>A | Exon 15 | 151,560,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |