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
RS1213073076 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1253353417 Health Risk Likely pathogenic —
RS1308650932 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1317340252 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1347648325 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1382701569 Health Risk Likely pathogenic —
RS1419041613 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS144896612 Health Risk Likely pathogenic —
RS1478670202 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1554203400 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1582576986 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1582774605 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1771924660 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1772453347 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS1772464385 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1772684260 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1773811703 Health Risk Likely pathogenic —
RS1775079523 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1776518694 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1782389325 Health Risk Likely pathogenic —
RS201200968 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS201899366 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2127994036 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2127998973 Health Risk Likely pathogenic —
RS2127999204 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2128057942 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483014149 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483015903 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483060451 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2483063381 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483083592 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483086717 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483090982 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483155390 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483164110 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483165715 Health Risk Likely pathogenic —
RS2483189043 Health Risk Likely pathogenic —
RS2483253242 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483256407 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483538013 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483588910 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483590050 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483598094 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483598377 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484020419 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484026671 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484185240 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484185872 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484189983 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484191788 Health Risk 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