rs1366319999

This variant is located in the FGF23 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Inborn genetic diseases; Autosomal dominant hypophosphatemic rickets;Tumoral calcinosis, hyperphosphatemic, familial, 2

About FGF23

This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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