Variant (rsID / SNP)

rs4426527

rs4426527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,817,516. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGXTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:241817516
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
Allele change: Missense_I340M

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.