Variants
ACTA2 variants
The 15 ACTA2 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 |
|---|---|---|---|---|---|
| A140V | c.419C>T | Exon 5 | 88,941,820 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G270R | c.808G>A | Exon 7 | 88,939,507 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R39C | c.115C>T | Exon 2 | 88,948,816 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R39H | c.116G>A | Exon 2 | 88,948,815 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R118Q | c.353G>A | Exon 4 | 88,943,813 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R118W | c.352C>T | Exon 4 | 88,943,814 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R149C | c.445C>T | Exon 5 | 88,941,794 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R179C | c.535C>T | Exon 6 | 88,941,310 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R179H | c.536G>A | Exon 6 | 88,941,309 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R198C | c.592C>T | Exon 6 | 88,941,253 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R198H | c.593G>A | Exon 6 | 88,941,252 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R212Q | c.635G>A | Exon 7 | 88,939,680 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R256C | c.766C>T | Exon 7 | 88,939,549 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R258C | c.772C>T | Exon 7 | 88,939,543 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R314X | c.940C>T | Exon 8 | 88,938,111 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |