Variant: rs121912683 

    present in Gene: SLC25A4
    present in Chromosome: 4
    Position on Chromosome: 185145020
    Alleles of this Variant: C/A

rs121912683 in SLC25A4 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE PMID 22187496 2012 Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

PMID 16155110 2005 Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

PMID 25732997 2015 Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.