Variant (rsID / SNP)

rs875989883

rs875989883 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.1735G>A (p.Gly579Arg)
Allele change: Missense_G579R

Associated conditions / phenotypes

Familial X-linked hypophosphatemic vitamin D refractory rickets|Vitamin D-dependent rickets, type 2

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.