Variants
MTOR variants
The 10 MTOR 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 |
|---|---|---|---|---|---|
| A1669S | c.5005G>T | Exon 36 | 11,139,429 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1483R | c.4447T>C | Exon 30 | 11,157,174 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1483Y | c.4448G>A | Exon 30 | 11,157,173 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1460P | c.4379T>C | Exon 30 | 11,157,242 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2427P | c.7280T>C | Exon 53 | 11,114,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2215F | c.6644C>T | Exon 47 | 11,124,516 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S2215Y | c.6644C>A | Exon 47 | 11,124,516 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1977K | c.5930C>A | Exon 43 | 11,128,107 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1977R | c.5930C>G | Exon 43 | 11,128,107 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W1490R | c.4468T>C | Exon 30 | 11,157,153 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |