Variant: rs119458970

present in Gene: ETFA present in Chromosome: 15 Position on Chromosome: 76274431 Alleles of this Variant: G/A

rs119458970 in ETFA gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 26409463 2016 Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

PMID 1430199 1992 Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.

PMID 9334218 1997 Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.