rs1054280

This variant is located in the ACADVL gene.

▶

GWAS Catalog Trait Associations (1)

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

acylcarnitine measurement

Chai JF et al. “Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases.” Human Molecular Genetics 29(2):189-201 (2020)

Allele T

OR 0.18

p 2.0e-10

N 1,954

Large GWAS

East Asian

▶

ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…