Variants
ACTA1 variants
Predicted effect: Splice site or region. 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 | 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.990+1G>T | Intron 6 | 229,431,720 | Pathogenic | 3 stars out of 4 reviewed by expert panel |