Variant (rsID / SNP)

rs121908528

rs121908528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,814,583. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGXTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:241814583
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)
Allele change: Nonsense_W246X

Associated conditions / phenotypes

Primary hyperoxaluria, type I

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.