rs746708682

This variant is located in the ACADS gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Deficiency of butyryl-CoA dehydrogenase

About ACADS

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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