Variant: rs141129877 

    present in Gene: EARS2
    present in Chromosome: 16
    Position on Chromosome: 23535176
    Alleles of this Variant: C/G;T

rs141129877 in EARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 PMID 22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

PMID 23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.