rs79536497

This variant is located in the VPS18 gene.

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters

not provided; Familial cancer of breast; Acute myeloid leukemia; Adrenocortical carcinoma, hereditary; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Melanoma; Malignant tumor of urinary bladder

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About VPS18

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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