Variant (rsID / SNP)

rs180177193

rs180177193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,808,719. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

AGXTOther

Clinical significance (as recorded): no interpretation for the single variant
Variant type: Duplication
Chromosome / position: 2:241808719
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)

Associated conditions / phenotypes

Hyperoxaluria, Primary, 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.