TUFM Chromosome 16
Tu translation elongation factor, mitochondrial
Upload your DNA to see your personal genotypes for variants in TUFM.
What This Gene Does
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Translational GTPases"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000178952
Associated Conditions (5)
Combined oxidative phosphorylation defect type 4
TUFM-related disorder
Ovarian serous cystadenocarcinoma
Gastric cancer
Inborn genetic diseases
Key Variants
RS114590091
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, TUFM-related disorder, Combined oxidative phosphorylation defect type 4
Health Risk
RS117782882
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Ovarian serous cystadenocarcinoma, Gastric cancer
Health Risk
RS138917503
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
Health Risk
RS141728293
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
Health Risk
RS146326033
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Inborn genetic diseases, Combined oxidative phosphorylation defect type 4
Health Risk
RS150844967
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS184878749
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
Health Risk
RS185379779
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, TUFM-related disorder, Combined oxidative phosphorylation defect type 4
Health Risk
RS34283928
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Inborn genetic diseases, Combined oxidative phosphorylation defect type 4
Health Risk
RS372069941
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, Inborn genetic diseases, Combined oxidative phosphorylation defect type 4
Health Risk
RS376169369
Conflicting classifications of pathogenicity
Health Risk
RS751421456
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 4, TUFM-related disorder, Combined oxidative phosphorylation defect type 4
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114590091 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, TUFM-related disorder, Combined oxidative phosphorylation defect type 4 |
| RS117782882 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Ovarian serous cystadenocarcinoma, Gastric cancer |
| RS138917503 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS141728293 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS146326033 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Inborn genetic diseases, Combined oxidative phosphorylation defect type 4 |
| RS150844967 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS184878749 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS185379779 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, TUFM-related disorder, Combined oxidative phosphorylation defect type 4 |
| RS34283928 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Inborn genetic diseases, Combined oxidative phosphorylation defect type 4 |
| RS372069941 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Inborn genetic diseases, Combined oxidative phosphorylation defect type 4 |
| RS376169369 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751421456 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, TUFM-related disorder, Combined oxidative phosphorylation defect type 4 |
| RS757569717 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS758912548 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS760803572 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS764459387 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS764968635 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780273573 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS918073945 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1085307974 | Health Risk | Likely pathogenic | — |
| RS863224246 | Health Risk | Likely pathogenic | — |
| RS924099073 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS1057518742 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |
| RS1057518743 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4 |