Variant: rs121908523 

    present in Gene: AGXT
    present in Chromosome: 2
    Position on Chromosome: 240868986
    Alleles of this Variant: G/A

rs121908523 in AGXT gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs121908523 in AGXT gene and Nephrolithiasis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs121908523 in AGXT gene and Primary hyperoxaluria, type I PMID 10394939 1999 Gene symbol: AGXT. Disease: primary hyperoxaluria type I.

PMID 12777626 2003 Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

PMID 15963748 2006 The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

PMID 10862087 2000 Identification of 5 novel mutations in the AGXT gene.

PMID 10453743 1999 Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

PMID 15253729 2004 Clinical implications of mutation analysis in primary hyperoxaluria type 1.

PMID 8101040 1993 Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

PMID 10960483 2000 Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

PMID 1349575 1992 A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.

PMID 16971151 2006 Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.

PMID 1301173 1992 A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

PMID 24934730 2014 Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

PMID 9604803 1998 Identification of new mutations in primary hyperoxaluria type 1 (PH1).

PMID 12559847 2003 The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.

PMID 15849466 2005 Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.

PMID 24055001 2013 Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

PMID 2039493 1991 Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.

PMID 23229545 2013 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.

PMID 17495019 2007 Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.

PMID 9192270 1997 Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.