TSFM Chromosome 12
Ts translation elongation factor, mitochondrial
Upload your DNA to see your personal genotypes for variants in TSFM.
What This Gene Does
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Associated Conditions (8)
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
TSFM-related disorder
Inborn genetic diseases
See cases
Encephalomyopathy with respiratory failure and lactic acidosis
Nephrotic syndrome
type 21
Primary dilated cardiomyopathy
Key Variants
RS1180813038
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS138461986
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS138534976
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS144109380
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS146777264
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, TSFM-related disorder, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS147317818
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, TSFM-related disorder, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS151248026
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Inborn genetic diseases, See cases
Health Risk
RS183575246
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, TSFM-related disorder, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS200132571
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Encephalomyopathy with respiratory failure and lactic acidosis, TSFM-related disorder
Health Risk
RS2140418135
Conflicting classifications of pathogenicity
Inborn genetic diseases, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Inborn genetic diseases
Health Risk
RS368313488
Conflicting classifications of pathogenicity
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Health Risk
RS376562033
Conflicting classifications of pathogenicity
Inborn genetic diseases, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Nephrotic syndrome
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140424315 | Health Risk | Pathogenic | — |
| RS2140424344 | Health Risk | Pathogenic | — |
| RS2140424365 | Health Risk | Pathogenic | — |
| RS2140428750 | Health Risk | Pathogenic | — |
| RS2540942936 | Health Risk | Pathogenic | — |
| RS2540943169 | Health Risk | Pathogenic | — |
| RS2540949341 | Health Risk | Pathogenic | — |
| RS2540950794 | Health Risk | Pathogenic | — |
| RS2540951027 | Health Risk | Pathogenic | — |
| RS2540964910 | Health Risk | Pathogenic | — |
| RS2540965100 | Health Risk | Pathogenic | — |
| RS2540965278 | Health Risk | Pathogenic | — |
| RS2540966009 | Health Risk | Pathogenic | — |
| RS2540966023 | Health Risk | Pathogenic | — |
| RS572532426 | Health Risk | Pathogenic | — |
| RS770374058 | Health Risk | Pathogenic | — |
| RS774375880 | Health Risk | Pathogenic | — |
| RS1381664827 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS1458612288 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1595137877 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS1955600413 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS201754030 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Primary dilated cardiomyopathy, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS2140412540 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS2140413092 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS2540949104 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS35957924 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS372337739 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS373811833 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS750371292 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS751169823 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS768320625 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS772810012 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS774870834 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| RS779144962 | Health Risk | Pathogenic/Likely pathogenic | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |