Variant (rsID / SNP)

rs17323225

rs17323225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XDH. Location: chromosome 2, position 31,593,265. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

XDHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:31593265
Cytoband: 2p23.1
HGVS: NM_000379.4(XDH):c.1936A>G (p.Ile646Val)
Allele change: Missense_I646V

Associated conditions / phenotypes

Hereditary xanthinuria type 1|Xanthinuria type II

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.