Variant: rs1057520507

present in Gene: MIR324;DVL2;ACADVL present in Chromosome: 17 Position on Chromosome: 7224972 Alleles of this Variant: C/T

rs1057520507 in MIR324;DVL2;ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 10431122 1999 Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.

PMID 27029698 2016 A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.

PMID 29111448 2018 Next generation sequencing as a follow-up test in an expanded newborn screening programme.