Variant (rsID / SNP)

rs72549369

rs72549369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XDH. Location: chromosome 2, position 31,620,584. Clinical significance in the table: Pathogenic.

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Reference-table entries

XDHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:31620584
Cytoband: 2p23.1
HGVS: NM_000379.4(XDH):c.445C>T (p.Arg149Cys)
Allele change: Missense_R149C

Associated conditions / phenotypes

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.