Gene: AGXT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064

2014
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR In the present work, we identified the double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with PH1 disease. 24012869

2013
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR In conclusion, in this PH1 population, all bearing the I244T mutation, the development of end-stage renal disease was distinctive during late adolescence or adulthood. 16912707

2006
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR Most of the PH1 alleles detected in the Canary Islands carry the Ile-244 --> Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozygous for this mutation. 12777626

2003
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. 10960483

2000
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group. 10541294

1999
dbSNP: rs121908525
rs121908525
AGXT
C 0.860 CausalMutation CLINVAR Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. 9192270

1997
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey. 27915025

2016
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115

2015
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 GeneticVariation CLINVAR Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. 25644115

2015
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064

2014
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. 23229545

2013
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Our results underscore the severe prognosis of primary hyperoxaluria type 1 and the necessity for early diagnosis and treatment, as well as confirm a better prognosis of the p.Gly170Arg mutation. 20016466

2010
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 GeneticVariation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957

2009
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. 19479957

2009
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 GeneticVariation CLINVAR We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy. 17495019

2007
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias. 16208537

2005
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) and one, c.103delG, in the GRHPR gene in DNA samples from 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis. 15327387

2004
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 GeneticVariation CLINVAR Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. 10960483

2000
dbSNP: rs121908529
rs121908529
AGXT
A 0.850 CausalMutation CLINVAR Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. 1703535

1990
dbSNP: rs121908524
rs121908524
AGXT
A 0.820 CausalMutation CLINVAR Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 24988064

2014
dbSNP: rs121908524
rs121908524
AGXT
A 0.820 CausalMutation CLINVAR Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. 23229545

2013
dbSNP: rs121908524
rs121908524
AGXT
A 0.820 CausalMutation CLINVAR Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. 17460142

2007
dbSNP: rs121908524
rs121908524
AGXT
A 0.820 CausalMutation CLINVAR Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. 8101040

1993
dbSNP: rs121908527
rs121908527
AGXT
A 0.800 GeneticVariation CLINVAR Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. 25629080

2015