EPRS1 Chromosome 1
Glutamyl-prolyl-tRNA synthetase 1
Upload your DNA to see your personal genotypes for variants in EPRS1.
What This Gene Does
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Aminoacyl tRNA synthetases, Class I|Aminoacyl tRNA synthetases, Class II"
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000136628
Associated Conditions (7)
Leukodystrophy
hypomyelinating
15
Inborn genetic diseases
EPRS1-related disorder
Intellectual disability
Global developmental delay
Key Variants
RS1288116010
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 15
Health Risk
RS141360496
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 15
Health Risk
RS147971538
Conflicting classifications of pathogenicity
Health Risk
RS149264109
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS181250691
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199544775
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS35055527
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS761131320
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 15
Health Risk
RS377639302
Likely pathogenic
Health Risk
RS930995541
Likely pathogenic
Leukodystrophy, hypomyelinating, 15
Health Risk
RS1398945915
Pathogenic
Health Risk
RS1474000585
Pathogenic
Leukodystrophy, hypomyelinating, 15
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1288116010 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy, hypomyelinating, 15 |
| RS141360496 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy, hypomyelinating, 15 |
| RS147971538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149264109 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS181250691 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199544775 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS35055527 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761131320 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy, hypomyelinating, 15 |
| RS377639302 | Health Risk | Likely pathogenic | — |
| RS930995541 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 15 |
| RS1398945915 | Health Risk | Pathogenic | — |
| RS1474000585 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 15 |
| RS1553318956 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 15 |
| RS2102568016 | Health Risk | Pathogenic | — |
| RS2527959424 | Health Risk | Pathogenic | — |
| RS2527968546 | Health Risk | Pathogenic | — |
| RS2527974593 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 15 |
| RS2527976630 | Health Risk | Pathogenic | — |
| RS2528022648 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2528034799 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS41274786 | Health Risk | Pathogenic | — |
| RS763737931 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 15 |
| RS771013981 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS898824971 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 15 |
| RS765537459 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 15 |