rs372727422

This variant is located in the WDPCP gene.

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ClinVar annotation

Likely Benign★★★☆
3 submitters2 publications

Bardet-Biedl syndrome; WDPCP-related disorder; not provided

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About WDPCP

This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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