MTFMT Chromosome 15
Mitochondrial methionyl-tRNA formyltransferase
Upload your DNA to see your personal genotypes for variants in MTFMT.
What This Gene Does
The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
Associated Conditions (11)
Leigh syndrome
Combined oxidative phosphorylation defect type 15
Microcephaly
Inborn genetic diseases
Mitochondrial complex I deficiency
nuclear type 27
MTFMT-Related Disorders
MTFMT-related disorder
6 conditions
See cases
Mitochondrial oxidative phosphorylation disorder
Key Variants
RS1023219835
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS1064793194
Conflicting classifications of pathogenicity
Health Risk
RS182623063
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15
Health Risk
RS190189891
Conflicting classifications of pathogenicity
Microcephaly, Microcephaly
Health Risk
RS34507711
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined oxidative phosphorylation defect type 15, Mitochondrial complex I deficiency
Health Risk
RS372732702
Conflicting classifications of pathogenicity
Health Risk
RS374845427
Conflicting classifications of pathogenicity
Health Risk
RS550446147
Conflicting classifications of pathogenicity
Health Risk
RS753929457
Conflicting classifications of pathogenicity
Health Risk
RS756935530
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS768732372
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771777757
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1023219835 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS1064793194 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182623063 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS190189891 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Microcephaly |
| RS34507711 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined oxidative phosphorylation defect type 15, Mitochondrial complex I deficiency |
| RS372732702 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374845427 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS550446147 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753929457 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756935530 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768732372 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771777757 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774208069 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS933296601 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 15, Inborn genetic diseases, Combined oxidative phosphorylation defect type 15 |
| RS994088488 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1321967748 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS375215524 | Health Risk | Likely pathogenic | — |
| RS751294162 | Health Risk | Likely pathogenic | — |
| RS771725115 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS863224897 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS1287504676 | Health Risk | Pathogenic | — |
| RS1437096183 | Health Risk | Pathogenic | — |
| RS1471807026 | Health Risk | Pathogenic | — |
| RS1555404423 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS200286768 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 27, Combined oxidative phosphorylation defect type 15 |
| RS201431517 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 15, Leigh syndrome, 6 conditions |
| RS2086461800 | Health Risk | Pathogenic | — |
| RS2140484777 | Health Risk | Pathogenic | — |
| RS2140493876 | Health Risk | Pathogenic | — |
| RS2140493897 | Health Risk | Pathogenic | — |
| RS2506148632 | Health Risk | Pathogenic | — |
| RS2506149766 | Health Risk | Pathogenic | — |
| RS2506149851 | Health Risk | Pathogenic | — |
| RS2506161488 | Health Risk | Pathogenic | — |
| RS587777244 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777418 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777419 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS769064443 | Health Risk | Pathogenic | MTFMT-Related Disorders, MTFMT-Related Disorders |
| RS769826891 | Health Risk | Pathogenic | — |
| RS777725264 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS397514613 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 15, Mitochondrial complex I deficiency, nuclear type 27 |
| RS397514614 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777417 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS754222633 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial oxidative phosphorylation disorder, Mitochondrial oxidative phosphorylation disorder |