Variant: rs1057516714

present in Gene: ACADVL;DLG4 present in Chromosome: 17 Position on Chromosome: 7221970 Alleles of this Variant: GTCT/-

rs1057516714 in ACADVL;DLG4 gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 10384387 1999 DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.