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 |
|---|---|---|---|
| RS781531865 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS796051966 | Health Risk | Likely pathogenic | — |
| RS1169197181 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1174882036 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1200031596 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS121964953 | Health Risk | Pathogenic | Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIc |
| RS121964954 | Health Risk | Pathogenic | Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency, See cases |
| RS121964956 | Health Risk | Pathogenic | Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1231802914 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1233725939 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1333454413 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1340862175 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1374116117 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1466787789 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1469053638 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS1473188524 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1486733753 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1561246744 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580422708 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580425904 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773877563 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773880008 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773952432 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773954366 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1773973345 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774344831 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774519872 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774610957 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774616485 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774633192 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774698674 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774703982 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS186023896 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS187248590 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS199899494 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126309523 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126314844 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126315337 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126315444 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316172 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316669 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316699 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316783 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126316885 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126321079 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126321296 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150304327 | Health Risk | Pathogenic | Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIc |
| RS2150304342 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150305196 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150305297 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |