Variant: rs139076647

present in Gene: PPA2 present in Chromosome: 4 Position on Chromosome: 105446444 Alleles of this Variant: C/A;T

rs139076647 in PPA2 gene and SUDDEN CARDIAC FAILURE, INFANTILE PMID 27523597 2016 Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

PMID 27523598 2016 Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.