Variant: rs199474660

present in Gene: ND2;TRNL1;ND1 present in Chromosome: MT Position on Chromosome: 3303 Alleles of this Variant: C/T

rs199474660 in ND2;TRNL1;ND1 gene and MELAS Syndrome PMID 9841711 1999 Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene.

PMID 7906985 1994 A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.