rs1158378032
This variant is located in the PHEX gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters2 publicationsnot provided; Familial X-linked hypophosphatemic vitamin D refractory rickets
View on ClinVar →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]
View all PHEX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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