rs61730501

This variant is located in the COL6A6 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; Ovarian serous cystadenocarcinoma

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About COL6A6

This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]

View all COL6A6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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