Variant (rsID / SNP)

rs886043680

rs886043680 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.

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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.1368G>C (p.Trp456Cys)
Allele change: Missense_W456C

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.