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 |
|---|---|---|---|
| RS2476721663 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476731972 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476732191 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476732632 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476732949 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476733074 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476733100 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476734756 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476735533 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476735987 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476736046 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476736065 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476741089 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476741210 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476741382 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476741563 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476741684 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479057315 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076087 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076127 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076294 | Health Risk | Likely pathogenic | ETFDH-related disorder, ETFDH-related disorder |
| RS2479080011 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080250 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080359 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080515 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080755 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086315 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479087993 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479088227 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479100223 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479110961 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479110964 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111050 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111341 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111562 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479116902 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479117006 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479120830 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479120869 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS369711837 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, ETFDH-related disorder |
| RS376630579 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS534388496 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Gastric cancer |
| RS751821289 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS760251231 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS764164607 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS768181815 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS769047475 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS770051042 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS776320810 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS777646291 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |