Variant: rs139548132 

    present in Gene: WARS2;WARS2-AS1
    present in Chromosome: 1
    Position on Chromosome: 119140608
    Alleles of this Variant: A/C;G;T

rs139548132 in WARS2;WARS2-AS1 gene and NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES PMID 28905505 2017 Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

PMID 28236339 2017 Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

PMID 28650581 2017 Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.