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Variant (rsID / SNP)

rs121918061

UROD

rs121918061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROD. Location: chromosome 1, position 45,480,668. 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
1:45480668
Cytoband
1p34.1
HGVS
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)
Allele change
Missense_Y311C

Associated conditions / phenotypes

Hepatoerythropoietic porphyria|Sporadic porphyria cutanea tarda

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.