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Gene entry

PHEX

phosphate regulating endopeptidase X-linked

Chromosome
X
Cytoband
Xp22.11
Variants (rsID)
86

PHEX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.11). Its official name is “phosphate regulating endopeptidase X-linked”. The reference table lists 86 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs151234075Benignsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs193922456Conflicting interpretationssingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs886043680Conflicting interpretationssingle nucleotide variant
  • rs193922454Likely pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs193922459Likely pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs137853268Pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs193922455Pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs193922457Pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs193922458Pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets
  • rs267606945Pathogenicsingle nucleotide variant
  • rs875989883Pathogenicsingle nucleotide variantFamilial X-linked hypophosphatemic vitamin D refractory rickets|Vitamin D-dependent rickets, type 2
  • rs267606946Uncertain significancesingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.