Variants
ACTC1 variants
The 5 ACTC1 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 |
|---|---|---|---|---|---|
| E101K | c.301G>A | Exon 3 | 34,793,398 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I284F | c.850A>T | Exon 6 | 34,791,254 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D26N | c.76G>A | Exon 2 | 34,794,733 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R212H | c.635G>A | Exon 5 | 34,792,263 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R314H | c.941G>A | Exon 6 | 34,791,163 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |