TARS2 Chromosome 1
Threonyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
"Aminoacyl tRNA synthetases, Class II|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000143374
Associated Conditions (2)
Combined oxidative phosphorylation defect type 21
Inborn genetic diseases
Key Variants
RS1382181446
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
Health Risk
RS145039072
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
Health Risk
RS146503501
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
Health Risk
RS374152310
Conflicting classifications of pathogenicity
Health Risk
RS753782098
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754955081
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760526545
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 21, Inborn genetic diseases, Combined oxidative phosphorylation defect type 21
Health Risk
RS773862035
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1287843869
Likely pathogenic
Health Risk
RS2102510285
Likely pathogenic
Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
Health Risk
RS2526263331
Likely pathogenic
Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
Health Risk
RS367870620
Likely pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1382181446 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS145039072 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS146503501 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS374152310 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753782098 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754955081 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760526545 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 21, Inborn genetic diseases, Combined oxidative phosphorylation defect type 21 |
| RS773862035 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1287843869 | Health Risk | Likely pathogenic | — |
| RS2102510285 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS2526263331 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS367870620 | Health Risk | Likely pathogenic | — |
| RS367984492 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS587777593 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS756855066 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS758088548 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS778133443 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS781477512 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS1322913410 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS2102494691 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |
| RS587777594 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21 |