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Variant (rsID / SNP)

rs61729604

AGXT

rs61729604 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,816,973. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGXTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:241816973
Cytoband
2q37.3
HGVS
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
Allele change
Missense_R289H

Associated conditions / phenotypes

Primary hyperoxaluria, type I

Public references

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