Variant (rsID / SNP)

rs180177294

rs180177294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGXT. Location: chromosome 2, position 241,817,014. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGXTLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:241817014
Cytoband: 2q37.3
HGVS: NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
Allele change: Nonsense_Q303X

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.