Variant: rs370523609 

    present in Gene: ACADM;DLSTP1
    present in Chromosome: 1
    Position on Chromosome: 75745788
    Alleles of this Variant: G/A

rs370523609 in ACADM;DLSTP1 gene and Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID 22630369 2012 Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

PMID 26223887 2015 Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.

PMID 20434380 2010 Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

PMID 27477829 2016 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

PMID 27308838 2017 Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.