Variant: rs796052056 

    present in Gene: TMEM70
    present in Chromosome: 8
    Position on Chromosome: 73976397
    Alleles of this Variant: -/GT

rs796052056 in TMEM70 gene and Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

PMID 21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

PMID 24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

rs796052056 in TMEM70 gene and Isolated ATP synthase deficiency PMID 25326274 2015 TMEM70 deficiency: long-term outcome of 48 patients.

PMID 20335238 2010 Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

PMID 20920610 2011 Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

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

rs796052056 in TMEM70 gene and Severe intellectual disability PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

PMID 21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

PMID 24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.