Variants
TMEM43 variants
The TMEM43 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 |
|---|---|---|---|---|---|
| S358L | c.1073C>T | Exon 12 | 14,141,665 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |