Variants
OTOF variants
The 7 OTOF 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 |
|---|---|---|---|---|---|
| c.2215-1G>C | Intron 18 | 26,477,750 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5193-1G>A | Intron 41 | 26,462,182 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E1700Q | c.5098G>C | Exon 40 | 26,463,969 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q829X | c.2485C>T | Exon 21 | 26,477,210 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R708X | c.2122C>T | Exon 18 | 26,479,356 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1583H | c.4748G>A | Exon 38 | 26,465,723 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1792C | c.5374C>T | Exon 43 | 26,461,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |