YARS1 Chromosome 1
Tyrosyl-tRNA synthetase 1
Upload your DNA to see your personal genotypes for variants in YARS1.
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. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
1p35.1
Ensembl
ENSG00000134684
Associated Conditions (18)
Charcot-Marie-Tooth disease dominant intermediate C
Neurodevelopmental delay
Inborn genetic diseases
Neurologic
endocrine
and pancreatic disease
multisystem
infantile-onset 2
YARS1-related disorder
recessive ARS-related multisystem disease
infantile-onset
Charcot-Marie-Tooth disease
Retinal degeneration
Hepatic steatosis
Severe hearing impairment
Primary amenorrhea
Corpus callosum
agenesis of
Key Variants
RS1344194115
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS1360212575
Conflicting classifications of pathogenicity
Neurodevelopmental delay, Charcot-Marie-Tooth disease dominant intermediate C, Neurodevelopmental delay
Health Risk
RS138454151
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Neurologic
Health Risk
RS141482636
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS142142194
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS146393022
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS1488727812
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS149620809
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, YARS1-related disorder, Inborn genetic diseases
Health Risk
RS1553122785
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS201272488
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS2148610315
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
RS2148614924
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1344194115 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS1360212575 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, Charcot-Marie-Tooth disease dominant intermediate C, Neurodevelopmental delay |
| RS138454151 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Neurologic |
| RS141482636 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS142142194 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS146393022 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS1488727812 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS149620809 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, YARS1-related disorder, Inborn genetic diseases |
| RS1553122785 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS201272488 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS2148610315 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS2148614924 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS371220818 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS371267865 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS375332060 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS376982377 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS751943571 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS753211165 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Neurologic, endocrine |
| RS759430430 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS763337272 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS763921769 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS764028295 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS767579114 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS771840678 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS774466323 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, recessive ARS-related multisystem disease, Neurologic |
| RS780528629 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS780574093 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate C |
| RS1638772305 | Health Risk | Likely pathogenic | Neurologic, endocrine, and pancreatic disease |
| RS2148614935 | Health Risk | Likely pathogenic | Neurologic, endocrine, and pancreatic disease |
| RS786205442 | Health Risk | Likely pathogenic | — |
| RS121908833 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate C |
| RS1553122256 | Health Risk | Pathogenic | Neurologic, endocrine, and pancreatic disease |
| RS1553123702 | Health Risk | Pathogenic | Neurologic, endocrine, and pancreatic disease |
| RS745530646 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS786200893 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS786204003 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C |
| RS121908834 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease, Neurologic |
| RS1279417718 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate C, Neurologic, endocrine |
| RS1653248260 | Health Risk | Pathogenic/Likely pathogenic | Retinal degeneration, Hepatic steatosis, Severe hearing impairment |
| RS376054085 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease dominant intermediate C, recessive ARS-related multisystem disease, Neurologic |