Gene entry
UROD
uroporphyrinogen decarboxylase
- Chromosome
- 1
- Cytoband
- 1p34.1
- Variants (rsID)
- 7
UROD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.1). Its official name is “uroporphyrinogen decarboxylase”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs2228084Benignsingle nucleotide variantFamilial porphyria cutanea tarda
- rs121918061Conflicting interpretationssingle nucleotide variantHepatoerythropoietic porphyria|Sporadic porphyria cutanea tarda
- rs121918066Conflicting interpretationssingle nucleotide variantFamilial porphyria cutanea tarda
- rs121918059Pathogenicsingle nucleotide variantHepatoerythropoietic porphyria
- rs121918065Pathogenicsingle nucleotide variantFamilial porphyria cutanea tarda
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.