Variant (rsID / SNP)

rs193922456

rs193922456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHEX. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHEXConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.11
HGVS: NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)
Allele change: Missense_L650P

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.