Variants
COCH variants
The 6 COCH variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| G87A | c.260G>C | Exon 5 | 30,878,831 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G87E | c.260G>A | Exon 5 | 30,878,831 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G87V | c.260G>T | Exon 5 | 30,878,831 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G87W | c.259G>T | Exon 5 | 30,878,830 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G88E | c.263G>A | Exon 5 | 30,878,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P51S | c.151C>T | Exon 4 | 30,877,640 | Pathogenic | 3 stars out of 4 reviewed by expert panel |