rs2230179

This variant is located in the ACADVL gene.

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ClinVar annotation

Benign★★★★

15 submitters3 publications

Very long chain acyl-CoA dehydrogenase deficiency; not specified; not provided; Clear cell carcinoma of kidney; Colorectal cancer; Nonpapillary renal cell carcinoma; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Gastric cancer; Malignant tumor of esophagus; Lung cancer; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia

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About ACADVL

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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