Variant (rsID / SNP)

rs137852796

rs137852796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROC1. Location: chromosome 3, position 126,229,555. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UROC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:126229555
Cytoband: 3q21.3
HGVS: NM_144639.3(UROC1):c.209T>C (p.Leu70Pro)
Allele change: Missense_L70P

Associated conditions / phenotypes

Urocanate hydratase deficiency

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.