FARS2 Chromosome 6
Phenylalanyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
6p25.1
Ensembl
ENSG00000145982
Associated Conditions (9)
Combined oxidative phosphorylation defect type 14
Inborn genetic diseases
FARS2-related disorder
Hereditary spastic paraplegia 77
See cases
Global developmental delay
Mitochondrial encephalomyopathy
Autosomal dominant Alport syndrome
Leigh syndrome
Key Variants
RS143959504
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Inborn genetic diseases, Combined oxidative phosphorylation defect type 14
Health Risk
RS145186610
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Inborn genetic diseases, Combined oxidative phosphorylation defect type 14
Health Risk
RS146356199
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, FARS2-related disorder, Combined oxidative phosphorylation defect type 14
Health Risk
RS148568494
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
Health Risk
RS149605576
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
Health Risk
RS1561990337
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
Health Risk
RS1561990390
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77, Combined oxidative phosphorylation defect type 14
Health Risk
RS200731335
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Inborn genetic diseases, Combined oxidative phosphorylation defect type 14
Health Risk
RS201991648
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, FARS2-related disorder, Combined oxidative phosphorylation defect type 14
Health Risk
RS202060864
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
Health Risk
RS372054960
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
Health Risk
RS538791135
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77, Combined oxidative phosphorylation defect type 14
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2127643855 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS2127718679 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS2127767975 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS2533574282 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS397514610 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Global developmental delay, Mitochondrial encephalomyopathy |
| RS753467517 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS761709212 | Health Risk | Pathogenic | Inborn genetic diseases, Combined oxidative phosphorylation defect type 14, Inborn genetic diseases |
| RS933237458 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS1322974029 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS1428625375 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Inborn genetic diseases, Combined oxidative phosphorylation defect type 14 |
| RS146988468 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS148620369 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, FARS2-related disorder, Autosomal dominant Alport syndrome |
| RS199863563 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77, FARS2-related disorder |
| RS751459058 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77, Inborn genetic diseases |
| RS761097220 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Inborn genetic diseases, Hereditary spastic paraplegia 77 |
| RS770597592 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14, FARS2-related disorder |
| RS775690041 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 77, Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77 |