Variant (rsID / SNP)

rs376844297

rs376844297 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,808,773. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGXTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:241808773
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)
Allele change: Missense_R118S

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.