rs886060817

This variant is located in the VCAN gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Wagner disease; Vitreoretinopathy

About VCAN

This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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