RARS2 Chromosome 6

Arginyl-tRNA synthetase 2, mitochondrial
234 variants 234 Health Risk

Upload your DNA to see your personal genotypes for variants in RARS2.

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
RS201386427 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483085708 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483190231 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483362975 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483587351 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484305794 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS2485060165 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS574343583 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS745829550 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS749630029 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS750319167 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS753312969 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS754610170 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS755936301 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS756101515 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS757743894 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS758622612 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS759331139 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS759420180 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS762495974 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS765088174 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS767056243 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS769473411 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS772887102 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS773838753 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS774755297 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS774923951 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS776309120 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS777942571 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Mitochondrial disease, Pontocerebellar hypoplasia type 6
RS781417096 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS863224182 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS863224186 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS886041639 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS927427873 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
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