Variant (rsID / SNP)

rs11921054

rs11921054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPOX. Location: chromosome 3, position 98,304,403. Clinical significance in the table: Benign.

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Reference-table entries

CPOXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:98304403
Cytoband: 3q11.2
HGVS: NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)
Allele change: Missense_R352C

Associated conditions / phenotypes

Hereditary coproporphyria

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.