Variant (rsID / SNP)

rs121917868

rs121917868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPOX. Location: chromosome 3, position 98,300,318. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CPOXPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:98300318
Cytoband: 3q11.2
HGVS: NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)
Allele change: Missense_K404E

Associated conditions / phenotypes

Harderoporphyria

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.