Variant (rsID / SNP)

rs28931603

rs28931603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPOX. Location: chromosome 3, position 98,299,553. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CPOXUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:98299553
Cytoband: 3q11.2
HGVS: NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
Allele change: Missense_R447C

Associated conditions / phenotypes

Coproporphyria|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.