Variant: rs1298860043

present in Gene: FARS2 present in Chromosome: 6 Position on Chromosome: 5545179 Alleles of this Variant: G/A;T

rs1298860043 in FARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.