Variants
ACTA1 variants
Predicted effect: Frameshift. 2 of 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.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| D181Tfs*11 | c.541del | Exon 4 | 229,432,344 | 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 |