YARS1, tyrosyl-tRNA synthetase 1, 8565

N. diseases: 30; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR An extended set of yeast-based functional assays accurately identifies human disease mutations. 26975778 2016
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
G 0.800 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. 26138142 2015
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
G 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
G 0.800 CausalMutation CLINVAR Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. 19561293 2009
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. 19561293 2009
dbSNP: rs121908833
rs121908833
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
0.800 GeneticVariation UNIPROT Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158 2006
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
0.800 GeneticVariation UNIPROT Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158 2006
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158 2006
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
G 0.800 CausalMutation CLINVAR Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158 2006
dbSNP: rs121908834
rs121908834
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. 14606043 2003
dbSNP: rs121908833
rs121908833
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.800 CausalMutation CLINVAR
dbSNP: rs786200893
rs786200893
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
T 0.700 CausalMutation CLINVAR
dbSNP: rs786204003
rs786204003
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1842237
Disease:
Charcot-Marie-Tooth Disease, Dominant Intermediate C
AT 0.700 CausalMutation CLINVAR
dbSNP: rs745530646
rs745530646
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1838103
Disease:
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
0.020 GeneticVariation BEFREE Clinical diagnosis of MLASA prompted direct sequence analysis of the YARS2 gene encoding the mitochondrial tyrosyl-tRNA synthetase, which revealed homozygosity for a known pathogenic mutation, c.156C>G;p.F52L. 23918765 2013
dbSNP: rs775505592
rs775505592
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1838103
Disease:
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
0.020 GeneticVariation BEFREE Clinical diagnosis of MLASA prompted direct sequence analysis of the YARS2 gene encoding the mitochondrial tyrosyl-tRNA synthetase, which revealed homozygosity for a known pathogenic mutation, c.156C>G;p.F52L. 23918765 2013
dbSNP: rs745530646
rs745530646
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1838103
Disease:
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
0.020 GeneticVariation BEFREE We have identified a pathogenic mutation (c.156C>G [p.F52L]) in YARS2, located at chromosome 12p11.21, by using genome-wide SNP-based homozygosity analysis of a family with affected members displaying myopathy, lactic acidosis, and sideroblastic anemia (MLASA). 20598274 2010
dbSNP: rs775505592
rs775505592
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C1838103
Disease:
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
0.020 GeneticVariation BEFREE We have identified a pathogenic mutation (c.156C>G [p.F52L]) in YARS2, located at chromosome 12p11.21, by using genome-wide SNP-based homozygosity analysis of a family with affected members displaying myopathy, lactic acidosis, and sideroblastic anemia (MLASA). 20598274 2010
dbSNP: rs1279417718
rs1279417718
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C4721453
Disease:
Peripheral Nervous System Diseases
0.010 GeneticVariation BEFREE Related adults heterozygous for YARS p.Pro167Thr showed no evidence of peripheral neuropathy on electromyography, in contrast to previous reports for other YARS variants. 30304524 2019
dbSNP: rs1279417718
rs1279417718
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C0031117
Disease:
Peripheral Neuropathy
0.010 GeneticVariation BEFREE Related adults heterozygous for YARS p.Pro167Thr showed no evidence of peripheral neuropathy on electromyography, in contrast to previous reports for other YARS variants. 30304524 2019
dbSNP: rs745530646
rs745530646
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
0.010 GeneticVariation BEFREE <i>In vitro</i> amino-acylation assays of five novel missense variants showed that three had less effect on the catalytic activity of YARS2 than the most commonly reported variant, p.(Phe52Leu), associated with MLASA2, which may explain the milder phenotypes in patients with these variants. 30026338 2018
dbSNP: rs775505592
rs775505592
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
0.010 GeneticVariation BEFREE <i>In vitro</i> amino-acylation assays of five novel missense variants showed that three had less effect on the catalytic activity of YARS2 than the most commonly reported variant, p.(Phe52Leu), associated with MLASA2, which may explain the milder phenotypes in patients with these variants. 30026338 2018