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
RS2128063348 Health Risk Pathogenic —
RS2128063781 Health Risk Pathogenic —
RS2128169501 Health Risk Pathogenic —
RS2128188269 Health Risk Pathogenic —
RS2128238503 Health Risk Pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS2482925700 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483080517 Health Risk Pathogenic —
RS2483093313 Health Risk Pathogenic —
RS2483156696 Health Risk Pathogenic —
RS2483160388 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2483363823 Health Risk Pathogenic —
RS2483367033 Health Risk Pathogenic —
RS2483538120 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483591737 Health Risk Pathogenic —
RS2483596451 Health Risk Pathogenic —
RS2484186373 Health Risk Pathogenic —
RS2484190981 Health Risk Pathogenic —
RS2484306377 Health Risk Pathogenic —
RS2484309410 Health Risk Pathogenic —
RS2484604436 Health Risk Pathogenic —
RS2484609438 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484886631 Health Risk Pathogenic —
RS2485059948 Health Risk Pathogenic —
RS368985469 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS377591456 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS63749985 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS756696262 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS770811557 Health Risk Pathogenic —
RS774513748 Health Risk Pathogenic —
RS775648499 Health Risk Pathogenic —
RS980996312 Health Risk Pathogenic —
RS1064795060 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1188006437 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1256144022 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1258569046 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Congenital cerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS1279587663 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1313558579 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1326705217 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1360282089 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1380223731 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1410239766 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS1419422047 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1428801547 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS143076225 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS147391618 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6
RS1582712331 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1788219551 Health Risk Pathogenic/Likely pathogenic —
RS1788693733 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS199728745 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Inborn genetic diseases, Pontocerebellar hypoplasia type 6
RS199835443 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
« Prev 1 2 3 4 5 Next »
Sign Up to Analyze Your DNA Log In