rs28933684

This is a variant in the NDP gene that changes a leucine to an phenylalanine.

ClinVar annotation

Pathogenic☆☆☆
2 submitters4 publications

Exudative vitreoretinopathy 2, X-linked

View on ClinVar →

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]

View all NDP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…