rs1001459139

This variant is located in the VANGL2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Neural tube defects, susceptibility to; Inborn genetic diseases

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About VANGL2

The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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