rs563813895

This variant is located in the VHL gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters2 publications

Chuvash polycythemia;Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome

About VHL

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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