RARS2 Chromosome 6
Arginyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
6q15
Ensembl
ENSG00000146282
Associated Conditions (10)
Severe intellectual deficiency
Pontocerebellar hypoplasia type 6
Inborn genetic diseases
Pontoneocerebellar hypoplasia
RARS2-related disorder
Congenital cerebellar hypoplasia
Abnormal brain morphology
Nonpapillary renal cell carcinoma
Cervical cancer
Mitochondrial disease
Key Variants
RS1057519014
Conflicting classifications of pathogenicity
Severe intellectual deficiency, Pontocerebellar hypoplasia type 6, Severe intellectual deficiency
Health Risk
RS1279762700
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS138360045
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS139721632
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6
Health Risk
RS140692271
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS141374913
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS142348911
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6
Health Risk
RS143389605
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS144242932
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pontocerebellar hypoplasia type 6, Inborn genetic diseases
Health Risk
RS145189950
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS145297855
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
Health Risk
RS147844153
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6
Health Risk
All Variants (234)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519014 | Health Risk | Conflicting classifications of pathogenicity | Severe intellectual deficiency, Pontocerebellar hypoplasia type 6, Severe intellectual deficiency |
| RS1279762700 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS138360045 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS139721632 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6 |
| RS140692271 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS141374913 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS142348911 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6 |
| RS143389605 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS144242932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pontocerebellar hypoplasia type 6, Inborn genetic diseases |
| RS145189950 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS145297855 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS147844153 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6 |
| RS1773402352 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS1777270779 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS185924037 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6 |
| RS187815721 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6 |
| RS199941996 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS200547165 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS201150141 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS34647222 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6 |
| RS368859792 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS369852737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375589432 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, RARS2-related disorder, Pontocerebellar hypoplasia type 6 |
| RS387907048 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS541516452 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS542159390 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS545377358 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS562472225 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS568483789 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, RARS2-related disorder, Pontocerebellar hypoplasia type 6 |
| RS748335175 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS749061654 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS750433723 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Congenital cerebellar hypoplasia, Pontocerebellar hypoplasia type 6 |
| RS756502974 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS760831364 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764668779 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764875815 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS767150990 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS767785738 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, RARS2-related disorder, Inborn genetic diseases |
| RS769045045 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS769498821 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770878816 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS775295739 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Pontoneocerebellar hypoplasia, RARS2-related disorder |
| RS781646725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863224178 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863224180 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886061822 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS1006914549 | Health Risk | Likely pathogenic | — |
| RS1011716245 | Health Risk | Likely pathogenic | — |
| RS1057522050 | Health Risk | Likely pathogenic | — |
| RS1167507020 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |