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.