Variant: rs72552291

present in Gene: GPD1L present in Chromosome: 3 Position on Chromosome: 32159096 Alleles of this Variant: C/T

rs72552291 in GPD1L gene and Brugada Syndrome 2 PMID 17967976 2007 Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.

PMID 17967977 2007 Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.

PMID 19666841 2009 GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.

PMID 19745168 2009 Cardiac Na+ current regulation by pyridine nucleotides.

rs72552291 in GPD1L gene and Death in infancy PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.