Variants
ACTA1 variants
The 39 ACTA1 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 |
|---|---|---|---|---|---|
| c.617-5C>A | Intron 4 | 229,432,190 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.687G>C | Exon 5 | 229,432,115 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.990+1G>T | Intron 6 | 229,431,720 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C376F | c.1127G>T | Exon 7 | 229,431,506 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C376S | c.1127G>C | Exon 7 | 229,431,506 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D13E | c.39C>A | Exon 2 | 229,433,077 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D13N | c.37G>A | Exon 2 | 229,433,079 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D58N | c.172G>A | Exon 3 | 229,432,838 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D181Tfs*11 | c.541del | Exon 4 | 229,432,344 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D290H | c.868G>C | Exon 6 | 229,431,843 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E59K | c.175G>A | Exon 3 | 229,432,835 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E95K | c.283G>A | Exon 3 | 229,432,727 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E102K | c.304G>A | Exon 3 | 229,432,706 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E336A | c.1007A>C | Exon 7 | 229,431,626 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G148R | c.442G>C | Exon 3 | 229,432,568 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G148S | c.442G>A | Exon 3 | 229,432,568 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G148V | c.443G>T | Exon 3 | 229,432,567 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H42Y | c.124C>T | Exon 2 | 229,432,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I73Nfs*11 | c.217dup | Exon 3 | 229,432,792 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I138M | c.414C>G | Exon 3 | 229,432,596 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I359L | c.1075A>C | Exon 7 | 229,431,558 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L223P | c.668T>C | Exon 5 | 229,432,134 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L348Q | c.1043T>A | Exon 7 | 229,431,590 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M229I | c.687G>A | Exon 5 | 229,432,115 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M229L | c.685A>T | Exon 5 | 229,432,117 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M229R | c.686T>G | Exon 5 | 229,432,116 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M229T | c.686T>C | Exon 5 | 229,432,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M229V | c.685A>G | Exon 5 | 229,432,117 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P334L | c.1001C>T | Exon 7 | 229,431,632 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P334R | c.1001C>G | Exon 7 | 229,431,632 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P334S | c.1000C>T | Exon 7 | 229,431,633 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P369L | c.1106C>T | Exon 7 | 229,431,527 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S352P | c.1054T>C | Exon 7 | 229,431,579 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V37L | c.109G>T | Exon 2 | 229,433,007 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V165M | c.493G>A | Exon 4 | 229,432,393 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W358C | c.1074G>T | Exon 7 | 229,431,559 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y145X | c.435C>A | Exon 3 | 229,432,575 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y308C | c.923A>G | Exon 6 | 229,431,788 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y364X | c.1092del | Exon 7 | 229,431,540 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |