NARS1 Chromosome 18
Asparaginyl-tRNA synthetase 1
Upload your DNA to see your personal genotypes for variants in NARS1.
What This Gene Does
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
18q21.31
Ensembl
ENSG00000134440
Associated Conditions (10)
Neurodevelopmental disorder
Neurodevelopmental disorder with microcephaly
impaired language
and gait abnormalities
See cases
epilepsy
Mitochondrial complex 1 deficiency
nuclear type 35
Developmental disorder
NARS1-related disorder
Key Variants
RS138016359
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, impaired language
Health Risk
RS149120526
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS780489988
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS148893823
Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS1908005677
Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS2122429938
Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy
Health Risk
RS2122431077
Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS2511575230
Likely pathogenic
Health Risk
RS778244918
Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS976688001
Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
RS1908000576
Pathogenic
Mitochondrial complex 1 deficiency, nuclear type 35, Mitochondrial complex 1 deficiency
Health Risk
RS1908000933
Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138016359 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, impaired language |
| RS149120526 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS780489988 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS148893823 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS1908005677 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS2122429938 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, epilepsy |
| RS2122431077 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS2511575230 | Health Risk | Likely pathogenic | — |
| RS778244918 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS976688001 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS1908000576 | Health Risk | Pathogenic | Mitochondrial complex 1 deficiency, nuclear type 35, Mitochondrial complex 1 deficiency |
| RS1908000933 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS2051507892 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly, impaired language |
| RS2511576695 | Health Risk | Pathogenic | NARS1-related disorder, NARS1-related disorder |
| RS747737475 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |
| RS770931044 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities |