Variants
GP1BB variants
Predicted effect: Frameshift. 5 of the 21 GP1BB 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 |
|---|---|---|---|---|---|
| A105Pfs*88 | c.313del | Exon 2 | 19,724,154 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A150Rfs*43 | c.448del | Exon 2 | 19,724,285 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A156Gfs*153 | c.466dup | Exon 2 | 19,724,308 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G106Afs*87 | c.315del | Exon 2 | 19,724,156 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H164Qfs*145 | c.491dup | Exon 2 | 19,724,333 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |