Variant (rsID / SNP)

rs117195882

rs117195882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,812,428. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AGXTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:241812428
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
Allele change: Missense_A186V

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.