rs759491078

This variant is located in the LRP4 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

Congenital myasthenic syndrome 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2

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About LRP4

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

View all LRP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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