ETFDH Chromosome 4
Electron transfer flavoprotein dehydrogenase
Upload your DNA to see your personal genotypes for variants in ETFDH.
What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
4q32.1
Ensembl
ENSG00000171503
Associated Conditions (16)
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2C
Glutaric acidemia IIc
ETFDH-related disorder
Hypertrophic cardiomyopathy
Inborn genetic diseases
Acute myeloid leukemia
Glutaric acidemia iic
late-onset
Abnormality of metabolism/homeostasis
Gastric cancer
See cases
Squamous cell lung carcinoma
Acyl-CoA dehydrogenase deficiency
glutaric acidemia type II
Other rare neuromuscular disorders
Key Variants
RS1131691336
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS1156517377
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS121964955
Conflicting classifications of pathogenicity
Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIc
Health Risk
RS1240083485
Conflicting classifications of pathogenicity
ETFDH-related disorder, Glutaric acidemia type 2C, ETFDH-related disorder
Health Risk
RS1265381182
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Glutaric acidemia IIc
Health Risk
RS1287661192
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS1373597092
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS139306043
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS1397900640
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS1408118210
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS141407224
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS1436514087
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
All Variants (295)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691336 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1156517377 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS121964955 | Health Risk | Conflicting classifications of pathogenicity | Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIc |
| RS1240083485 | Health Risk | Conflicting classifications of pathogenicity | ETFDH-related disorder, Glutaric acidemia type 2C, ETFDH-related disorder |
| RS1265381182 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Glutaric acidemia IIc |
| RS1287661192 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1373597092 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS139306043 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS1397900640 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1408118210 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS141407224 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS1436514087 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1442766122 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1448673327 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1450977775 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS146882697 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS147219158 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Hypertrophic cardiomyopathy, ETFDH-related disorder |
| RS150105001 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS1554031705 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS1561251388 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773952713 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774519367 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS180889150 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS182144074 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS199589412 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS200111698 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS200911913 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Acute myeloid leukemia |
| RS201823591 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126314946 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150312216 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150312288 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS369912835 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS370159889 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS371260517 | Health Risk | Conflicting classifications of pathogenicity | Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C |
| RS373776053 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS375172942 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS377686388 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Inborn genetic diseases |
| RS566605780 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS746105363 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS748640706 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS750189181 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS751256504 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS752971257 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS754082348 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS754418186 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS754795292 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS759959904 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS760234838 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS764284379 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS765742496 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |