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 |
|---|---|---|---|
| RS2150311734 | Health Risk | Pathogenic | Glutaric acidemia iic, late-onset, Glutaric acidemia iic |
| RS2150312228 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150312280 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476721648 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476732154 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476733094 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476734760 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476735862 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2476741902 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479075665 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479076416 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080223 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080854 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080873 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479080929 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086057 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479086220 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2479111092 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS398124153 | Health Risk | Pathogenic | — |
| RS549150456 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS558005496 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS745693501 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS745714733 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS751394068 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS755907131 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS760806279 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS761008371 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS765063539 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS767046886 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS767249944 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS773668457 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Abnormality of metabolism/homeostasis, ETFDH-related disorder |
| RS776853600 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C, Multiple acyl-CoA dehydrogenase deficiency |
| RS780015493 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS796051960 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS796051964 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder, Inborn genetic diseases |
| RS878853006 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS917285990 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS949249162 | Health Risk | Pathogenic | — |
| RS989125087 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1172887273 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1235904433 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1279728239 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1369800014 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1480647123 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580396712 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580406119 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1774630121 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS200920510 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2126309189 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2150304339 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |