Variant (rsID / SNP)

rs121918059

rs121918059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROD. Location: chromosome 1, position 45,480,507. Clinical significance in the table: Pathogenic.

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Reference-table entries

URODPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:45480507
Cytoband: 1p34.1
HGVS: NM_000374.5(UROD):c.874C>G (p.Arg292Gly)
Allele change: Missense_R292G

Associated conditions / phenotypes

Hepatoerythropoietic porphyria

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.