Variant (rsID / SNP)

rs45442092

rs45442092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XDH. Location: chromosome 2, position 31,595,130. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

XDHLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:31595130
Cytoband: 2p23.1
HGVS: NM_000379.4(XDH):c.1820G>A (p.Arg607Gln)
Allele change: Missense_R607Q

Associated conditions / phenotypes

Xanthinuria type II|Hereditary xanthinuria type 1

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.