Variant (rsID / SNP)

rs180177253

rs180177253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,813,452. 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: 2:241813452
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
Allele change: Missense_S218L

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.