Variant: rs199474817 

    present in Gene: COX2;COX3;TRNS1;COX1;ATP6;ATP8
    present in Chromosome: MT
    Position on Chromosome: 7512
    Alleles of this Variant: T/C

rs199474817 in COX2;COX3;TRNS1;COX1;ATP6;ATP8 gene and MELAS Syndrome PMID 7669057 1995 A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.