Variant: rs199474657

present in Gene: TRNL1;ND1;ND2 present in Chromosome: MT Position on Chromosome: 3243 Alleles of this Variant: A/G

rs199474657 in TRNL1;ND1;ND2 gene and Leigh Disease PMID 10356136 1999 Infantile encephalopathy associated with the MELAS A3243G mutation.

rs199474657 in TRNL1;ND1;ND2 gene and MELAS Syndrome PMID 11085913 2001 Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

rs199474657 in TRNL1;ND1;ND2 gene and Mitochondrial Diseases PMID 15372523 2004 Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

PMID 11085913 2001 Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.