Variant (rsID / SNP)

rs121434566

rs121434566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPX. Location: chromosome 17, position 56,274,355. Clinical significance in the table: Affects.

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Reference-table entries

EPXOther

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 17:56274355
Cytoband: 17q22
HGVS: NM_000502.6(EPX):c.857G>A (p.Arg286His)
Allele change: Missense_R286H

Associated conditions / phenotypes

Eosinophil peroxidase deficiency

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.