rs377679439

This variant is located in the ETFDH gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Multiple acyl-CoA dehydrogenase deficiency

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About ETFDH

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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