Variant: rs145867327 

    present in Gene: WARS2
    present in Chromosome: 1
    Position on Chromosome: 119033056
    Alleles of this Variant: T/A

rs145867327 in WARS2 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.