ACADVL Chromosome 17
Acyl-CoA dehydrogenase very long chain
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What This Gene Does
The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000072778
Associated Conditions (21)
Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases
ACADVL-related disorder
Clear cell carcinoma of kidney
Myopathy
Rhabdomyolysis
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Cardiac arrhythmia
Cervical cancer
Acute rhabdomyolysis
See cases
Abnormal circulating enzyme concentration
Colon adenocarcinoma
Gastric cancer
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Malignant tumor of urinary bladder
Malignant lymphoma
large B-cell
diffuse
+1 more conditions
Key Variants
RS1026112888
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1057523216
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1057523504
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1131691808
Conflicting classifications of pathogenicity
Inborn genetic diseases, Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS113994169
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1161495077
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS118204018
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1241935771
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1262931604
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1351976589
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1356652354
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
RS1384021857
Conflicting classifications of pathogenicity
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
Health Risk
All Variants (503)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1231343685 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1239346965 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1240846419 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1258134795 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1282005622 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1298004609 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1325289676 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1331739604 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1343647718 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS138058572 | Health Risk | Likely pathogenic | Myopathy, Rhabdomyolysis, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1402646371 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS140629318 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases |
| RS140989450 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1432183079 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1452339268 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1452402269 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1454430871 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1489679976 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527450 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527464 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527495 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527513 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527532 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527732 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527741 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555527745 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Colon adenocarcinoma |
| RS1555527907 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555528181 | Health Risk | Likely pathogenic | — |
| RS1555528188 | Health Risk | Likely pathogenic | — |
| RS1555528265 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555528386 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555528635 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555528745 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555528804 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555528937 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555529004 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1555529044 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567560601 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567561598 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567563311 | Health Risk | Likely pathogenic | — |
| RS1567564499 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567565643 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567566228 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567567440 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1567569262 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1597518019 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1597518954 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1597520263 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1597524963 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1597525536 | Health Risk | Likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |