Variant: rs267607180 

    present in Gene: YARS2
    present in Chromosome: 12
    Position on Chromosome: 32755719
    Alleles of this Variant: G/A;C

rs267607180 in YARS2 gene and MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 PMID 24344687 2013 Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

PMID 20598274 2010 Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

PMID 23918765 2013 A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

PMID 30026338 2018 <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.

PMID 22504945 2012 A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.