Variant (rsID / SNP)

rs2228084

rs2228084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROD. Location: chromosome 1, position 45,479,709. Clinical significance in the table: Benign.

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Reference-table entries

URODBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:45479709
Cytoband: 1p34.1
HGVS: NM_000374.5(UROD):c.603A>G (p.Pro201=)
Allele change: Synonymous_P201P

Associated conditions / phenotypes

Familial porphyria cutanea tarda

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.