Variant (rsID / SNP)

rs147601535

rs147601535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,810,831. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGXTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:241810831
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.489G>A (p.Leu163=)
Allele change: Synonymous_L163L

Associated conditions / phenotypes

Primary hyperoxaluria, type I|Primary hyperoxaluria

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.