Variant (rsID / SNP)

rs201724997

rs201724997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROC1. Location: chromosome 3, position 126,218,210. Clinical significance in the table: Uncertain significance.

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Reference-table entries

UROC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:126218210
Cytoband: 3q21.3
HGVS: NM_144639.3(UROC1):c.1286G>A (p.Arg429His)
Allele change: Missense_R429H

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.