Variant: rs139515727 

    present in Gene: VARS2
    present in Chromosome: 6
    Position on Chromosome: 30915985
    Alleles of this Variant: C/T

rs139515727 in VARS2 gene and Movement Disorders PMID 27502409 2017 Neonatal encephalocardiomyopathy caused by mutations in VARS2.

PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.