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 |
|---|---|---|---|
| RS775548362 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS776428695 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS780768015 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS796051958 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS796051965 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder |
| RS887871605 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS917132143 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1165102742 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1225042876 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1232214003 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1241072742 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1244950045 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1281406250 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1291408658 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1292908960 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1404406222 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1426349276 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1430630684 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1441657866 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1444488601 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1466275942 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1482632936 | Health Risk | Likely pathogenic | Glutaric acidemia iic, late-onset, Multiple acyl-CoA dehydrogenase deficiency |
| RS1485038306 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS150832878 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1554031483 | Health Risk | Likely pathogenic | — |
| RS1554031490 | Health Risk | Likely pathogenic | — |
| RS1561247874 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1561251640 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580415323 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580422659 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580423432 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773827322 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773829495 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773884764 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773956317 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773974277 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774518252 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774695889 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774704214 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Glutaric acidemia type 2C |
| RS1774704452 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS182913453 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316486 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126321188 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150312193 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150312312 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150312322 | Health Risk | Likely pathogenic | Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis |
| RS2476720848 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476721217 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476721416 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476721592 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |