Variant (rsID / SNP)

rs207440

rs207440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XDH. Location: chromosome 2, position 31,562,412. Clinical significance in the table: Benign.

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Reference-table entries

XDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:31562412
Cytoband: 2p23.1
HGVS: NM_000379.4(XDH):c.3717G>A (p.Glu1239=)
Allele change: Synonymous_E1239E

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.