Variants
SHOC2 variants
The SHOC2 variant 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 |
|---|---|---|---|---|---|
| S2G | c.4A>G | Exon 2 | 110,964,362 | Pathogenic | 3 stars out of 4 reviewed by expert panel |