Variant: rs1555528304 

    present in Gene: ACADVL;DLG4
    present in Chromosome: 17
    Position on Chromosome: 7222037
    Alleles of this Variant: CT/-

rs1555528304 in ACADVL;DLG4 gene and Pearson's marrow-pancreas syndrome PMID 11349232 2001 Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

rs1555528304 in ACADVL;DLG4 gene and 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.