Variant: rs118203885

present in Gene: TRNF present in Chromosome: MT Position on Chromosome: 583 Alleles of this Variant: G/A

rs118203885 in TRNF gene and MELAS Syndrome PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

PMID 16806928 2006 Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.

PMID 9771776 1998 MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.