Variants
GP9 variants
Predicted effect: Frameshift. 3 of the 16 GP9 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 |
|---|---|---|---|---|---|
| A159Rfs*77 | c.437_474dup | Exon 3 | 129,062,172 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G40Afs*43 | c.119del | Exon 3 | 129,061,854 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V148Gfs*67 | c.442dup | Exon 3 | 129,062,176 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |