Variant: rs193303018

present in Gene: ND2;ND1;TRNL1 present in Chromosome: MT Position on Chromosome: 3242 Alleles of this Variant: G/A

rs193303018 in ND2;ND1;TRNL1 gene and MELAS Syndrome PMID 22781753 2012 Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

PMID 15870203 2005 Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.

PMID 19460299 2009 Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.