RARS1 Chromosome 5
Arginyl-tRNA synthetase 1
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What This Gene Does
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
5q34
Ensembl
ENSG00000113643
Associated Conditions (4)
RARS1-related disorder
Inborn genetic diseases
Hypomyelinating leukodystrophy 9
Leukodystrophy
Key Variants
RS11557638
Conflicting classifications of pathogenicity
RARS1-related disorder, Inborn genetic diseases, RARS1-related disorder
Health Risk
RS1272430190
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
Health Risk
RS139644798
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 9, Inborn genetic diseases, Hypomyelinating leukodystrophy 9
Health Risk
RS144891956
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 9, Inborn genetic diseases, Hypomyelinating leukodystrophy 9
Health Risk
RS151300636
Conflicting classifications of pathogenicity
Health Risk
RS180760483
Conflicting classifications of pathogenicity
Health Risk
RS34446466
Conflicting classifications of pathogenicity
RARS1-related disorder, Hypomyelinating leukodystrophy 9, Inborn genetic diseases
Health Risk
RS373354156
Conflicting classifications of pathogenicity
Health Risk
RS560759460
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS576527619
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS780133021
Conflicting classifications of pathogenicity
Health Risk
RS1422385923
Likely pathogenic
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11557638 | Health Risk | Conflicting classifications of pathogenicity | RARS1-related disorder, Inborn genetic diseases, RARS1-related disorder |
| RS1272430190 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS139644798 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 9, Inborn genetic diseases, Hypomyelinating leukodystrophy 9 |
| RS144891956 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 9, Inborn genetic diseases, Hypomyelinating leukodystrophy 9 |
| RS151300636 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS180760483 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34446466 | Health Risk | Conflicting classifications of pathogenicity | RARS1-related disorder, Hypomyelinating leukodystrophy 9, Inborn genetic diseases |
| RS373354156 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS560759460 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS576527619 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780133021 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1422385923 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS1758704447 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS1758706556 | Health Risk | Likely pathogenic | RARS1-related disorder, RARS1-related disorder |
| RS757249400 | Health Risk | Likely pathogenic | — |
| RS768923402 | Health Risk | Likely pathogenic | — |
| RS778874286 | Health Risk | Likely pathogenic | — |
| RS779915495 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 9, Leukodystrophy, Hypomyelinating leukodystrophy 9 |
| RS1057518618 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1064792894 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS1272214299 | Health Risk | Pathogenic | — |
| RS1312438512 | Health Risk | Pathogenic | — |
| RS2152903817 | Health Risk | Pathogenic | — |
| RS2533375515 | Health Risk | Pathogenic | — |
| RS2533404521 | Health Risk | Pathogenic | — |
| RS672601372 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601373 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601374 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS672601375 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS754997301 | Health Risk | Pathogenic | — |
| RS769713780 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 9, Inborn genetic diseases, Hypomyelinating leukodystrophy 9 |
| RS1358682351 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS369398935 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS749027104 | Health Risk | Pathogenic/Likely pathogenic | — |