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Variant (rsID / SNP)

rs138649664

XDH

rs138649664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XDH. Location: chromosome 2, position 31,600,072. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

XDHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:31600072
Cytoband
2p23.1
HGVS
NM_000379.4(XDH):c.1274C>G (p.Ser425Cys)
Allele change
Missense_S425C

Associated conditions / phenotypes

Hereditary xanthinuria type 1|Xanthinuria type II

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.