rs137853269

This is a variant in the PHEX gene that changes a cysteine to an serine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters9 publications

Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHRD)

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About PHEX

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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