ETFB Chromosome 19
Electron transfer flavoprotein subunit beta
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What This Gene Does
This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
19q13.41
Ensembl
ENSG00000105379
Associated Conditions (6)
Glutaric acidemia IIb
Multiple acyl-CoA dehydrogenase deficiency
Inborn genetic diseases
Chronic kidney disease
ETFB-related disorder
Glutaric acidemia IIc
Key Variants
RS104894678
Conflicting classifications of pathogenicity
Glutaric acidemia IIb, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIb
Health Risk
RS139519507
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS147353781
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Chronic kidney disease, ETFB-related disorder
Health Risk
RS148045813
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS149129214
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS200186078
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS2514144391
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS376065198
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS572600030
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, ETFB-related disorder, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS746888203
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS74735908
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
RS748730384
Conflicting classifications of pathogenicity
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894678 | Health Risk | Conflicting classifications of pathogenicity | Glutaric acidemia IIb, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIb |
| RS139519507 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS147353781 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Chronic kidney disease, ETFB-related disorder |
| RS148045813 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS149129214 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Multiple acyl-CoA dehydrogenase deficiency |
| RS200186078 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514144391 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS376065198 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS572600030 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, ETFB-related disorder, Multiple acyl-CoA dehydrogenase deficiency |
| RS746888203 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS74735908 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS748730384 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS750961823 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS758509148 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency |
| RS767608788 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS772976948 | Health Risk | Conflicting classifications of pathogenicity | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1173733121 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1190771575 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1303961688 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1568466685 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514144368 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514152673 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514153018 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514153129 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514155370 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514155556 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514155822 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514155999 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514169709 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS766066977 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS770665020 | Health Risk | Likely pathogenic | — |
| RS781748603 | Health Risk | Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS796051954 | Health Risk | Likely pathogenic | — |
| RS2123572141 | Health Risk | Pathogenic | Glutaric acidemia IIb, Glutaric acidemia IIb |
| RS2123580195 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2123587098 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514144323 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514149482 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS758137319 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS104894677 | Health Risk | Pathogenic/Likely pathogenic | Glutaric acidemia IIb, Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIb |
| RS1193726585 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS187424345 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1985903483 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2514156024 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS374288379 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS774387920 | Health Risk | Pathogenic/Likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |