rs539989327

This variant is located in the ETFB gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter3 publications

Multiple acyl-CoA dehydrogenase deficiency

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About ETFB

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

View all ETFB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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