Variant (rsID / SNP)

rs121908525

rs121908525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,814,576. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGXTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:241814576
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
Allele change: Missense_I244T

Associated conditions / phenotypes

Primary hyperoxaluria, type I|Primary hyperoxaluria|Nephrocalcinosis|Nephrolithiasis

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.