Variants
SGCB variants
The 8 SGCB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| F233Lfs*16 | c.699_702del | Exon 5 | 52,028,018 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G129Qfs*2 | c.377_384dup | Exon 3 | 52,029,722 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R29X | c.85A>T | Exon 2 | 52,033,589 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R91C | c.271C>T | Exon 3 | 52,029,836 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R131X | c.391C>T | Exon 3 | 52,029,716 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S114F | c.341C>T | Exon 3 | 52,029,766 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T151R | c.452C>G | Exon 4 | 52,028,899 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V89M | c.265G>A | Exon 3 | 52,029,842 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |