rs35683292

This variant is located in the BCO1 gene.

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ClinVar annotation

Benign★★★☆
4 submitters1 publication

not provided; BCO1-related disorder; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Sarcoma; Acute myeloid leukemia; Nonpapillary renal cell carcinoma

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About BCO1

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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