Variant: rs121434474 

    present in Gene: ND4;TRNH;ND5
    present in Chromosome: MT
    Position on Chromosome: 12147
    Alleles of this Variant: G/A

rs121434474 in ND4;TRNH;ND5 gene and MELAS Syndrome PMID 15111688 2004 Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

PMID 14967777 2004 Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.