Variant (rsID / SNP)

rs145064943

rs145064943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XDH. Location: chromosome 2, position 31,621,487. Clinical significance in the table: Uncertain significance.

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Reference-table entries

XDHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:31621487
Cytoband: 2p23.1
HGVS: NM_000379.4(XDH):c.385C>T (p.Arg129Trp)
Allele change: Missense_R129W

Associated conditions / phenotypes

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.