Variant: rs121909485 

    present in Gene: TSFM
    present in Chromosome: 12
    Position on Chromosome: 57796539
    Alleles of this Variant: C/T

rs121909485 in TSFM gene and Combined Oxidative Phosphorylation Deficiency 3 PMID 17033963 2006 Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

PMID 27677415 2016 Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

PMID 22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.