Variants
HBA2 variants
The 8 HBA2 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.*92A>G | Exon 3 | 173,692 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2del | Exon 1 | 172,913 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.93_95+2del | Exon 1 | 173,004 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C105R | c.313T>C | Exon 3 | 173,484 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G60D | c.179G>A | Exon 2 | 173,208 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L30P | c.89T>C | Exon 1 | 173,001 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L126R | c.377T>G | Exon 3 | 173,548 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| X143Qext*31 | c.427T>C | Exon 3 | 173,598 | Pathogenic | 3 stars out of 4 reviewed by expert panel |