Variants
HBA2 variants
Predicted effect: Stop lost. The one HBA2 variant of the 8 with a page here. Its page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| X143Qext*31 | c.427T>C | Exon 3 | 173,598 | Pathogenic | 3 stars out of 4 reviewed by expert panel |