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
RS2484304425 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484309526 Health Risk Likely pathogenic —
RS2484309736 Health Risk Likely pathogenic —
RS2484604814 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484606377 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484606463 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484607160 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484884559 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484885461 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484886490 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485060437 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485061154 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485061850 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485823613 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS751270981 Health Risk Likely pathogenic —
RS753184491 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS753913206 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS757088000 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS757778880 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS759922477 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS762630866 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS770750240 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS771801398 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Cervical cancer, Pontocerebellar hypoplasia type 6
RS772989345 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS863224183 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, RARS2-related disorder, Pontocerebellar hypoplasia type 6
RS929628076 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS938887836 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1047201601 Health Risk Pathogenic —
RS1057165128 Health Risk Pathogenic —
RS1230343126 Health Risk Pathogenic —
RS1360901964 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1399333767 Health Risk Pathogenic —
RS1408583008 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1435620034 Health Risk Pathogenic —
RS1475065783 Health Risk Pathogenic —
RS1582264160 Health Risk Pathogenic —
RS1726024963 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1731852340 Health Risk Pathogenic —
RS1768955731 Health Risk Pathogenic —
RS1773204992 Health Risk Pathogenic —
RS1773207732 Health Risk Pathogenic —
RS1776810581 Health Risk Pathogenic —
RS1777321509 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1782401252 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1788689886 Health Risk Pathogenic —
RS199862050 Health Risk Pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2127993899 Health Risk Pathogenic —
RS2128000506 Health Risk Pathogenic —
RS2128017262 Health Risk Pathogenic —
RS2128035798 Health Risk Pathogenic —
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