rs886059192

This variant is located in the ETFDH gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Multiple acyl-CoA dehydrogenase deficiency

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]

View all ETFDH 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…