rs2519314969
This variant is located in the NDP gene.
▶ClinVar annotation
Pathogenic★☆☆☆
1 submitter3 publicationsAbout 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]
View all NDP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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