Variant (rsID / SNP)

rs121918066

rs121918066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROD. Location: chromosome 1, position 45,481,061. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

URODConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:45481061
Cytoband: 1p34.1
HGVS: NM_000374.5(UROD):c.995G>A (p.Arg332His)
Allele change: Missense_R332H

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.