rs104894874

This is a variant in the NDP gene that changes a histidine to an arginine.

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ClinVar annotation

Pathogenic★★★☆
5 submitters7 publications

Atrophia bulborum hereditaria (ND); Exudative vitreoretinopathy 2, X-linked; Exudative vitreoretinopathy, X-linked

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About NDP

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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