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Variant (rsID / SNP)

rs796052064

AGXT

rs796052064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,817,492. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AGXTPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:241817492
Cytoband
2q37.3
HGVS
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
Allele change
Nonsense_W332X

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.