rs148833471

This variant is located in the MVD gene.

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ClinVar annotation

Likely Benign★★★☆
4 submitters2 publications

not provided; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Melanoma; Acute myeloid leukemia; Clear cell carcinoma of kidney; Malignant tumor of urinary bladder; Malignant tumor of esophagus; Uterine corpus endometrial carcinoma; Uveal melanoma; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary; Lung cancer; Cervical cancer; Familial cancer of breast

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About MVD

The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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