Variant: rs1057517281

present in Gene: MIR324;ACADVL present in Chromosome: 17 Position on Chromosome: 7223194 Alleles of this Variant: GAG/-

rs1057517281 in MIR324;ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PMID 24305961 2014 Muscle MRI in patients with long-chain fatty acid oxidation disorders.

PMID 25834949 2015 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

PMID 21814341 2011 MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.