rs28934585

This is a variant in the ACADVL gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

metabolite measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele T
OR 0.32
p 2.0e-11
N 2,466
Large GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★★★★
12 submitters3 publications

Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD); not specified

View on ClinVar →

About ACADVL

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

View all ACADVL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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