Variants
F9 variants
Predicted effect: Frameshift. The one F9 variant of the 44 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 |
|---|---|---|---|---|---|
| P324Cfs*2 | c.969_975del | Exon 8 | 139,561,652 | Pathogenic | 3 stars out of 4 reviewed by expert panel |