Variant (rsID / SNP)

rs193922455

rs193922455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHEX. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PHEXPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)
Allele change: Nonsense_W530X

Associated conditions / phenotypes

Familial X-linked hypophosphatemic vitamin D refractory rickets

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.