Variants
SGCA variants
Predicted effect: Splice site or region. 3 of the 28 SGCA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.37+6T>C | Intron 1 | 50,166,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.585-1G>A | Intron 5 | 50,169,091 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.957-11C>G | Intron 7 | 50,170,629 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |