Variant: rs183973249 

    present in Gene: TMEM70
    present in Chromosome: 8
    Position on Chromosome: 73981153
    Alleles of this Variant: A/G;T

rs183973249 in TMEM70 gene and Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency PMID 20937241 2011 Expression and processing of the TMEM70 protein.

PMID 22433607 2012 Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.

PMID 26550569 2015 ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

PMID 21815885 2011 Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.