Variants
PDHA1 variants
The 5 PDHA1 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 |
|---|---|---|---|---|---|
| A169V | c.506C>T | Exon 5 | 19,353,169 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R72C | c.214C>T | Exon 3 | 19,350,033 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R304X | c.910C>T | Exon 10 | 19,358,926 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R378C | c.1132C>T | Exon 11 | 19,359,612 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W383Sfs*6 | c.1142_1145dup | Exon 11 | 19,359,619 | Pathogenic | 3 stars out of 4 reviewed by expert panel |