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Variant (rsID / SNP)

rs202232611

UROC1

rs202232611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROC1. Location: chromosome 3, position 126,222,886. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UROC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:126222886
Cytoband
3q21.3
HGVS
NM_144639.3(UROC1):c.854G>A (p.Trp285Ter)
Allele change
Nonsense_W285X

Associated conditions / phenotypes

Urocanate hydratase deficiency

Public references

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