Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

AGXT

Gene name: alanine-glyoxylate aminotransferase
OMIM ID: 604285
Chromosome location: 2q37.3

Mutations

Disease/PhenotypeHyperoxaluria, primary, type 1
Reference transcriptNM_000030.2
DNA Changec.331C>T
A.A. Changep.Arg111*
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceBoualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A. AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18.

Disease/PhenotypeHyperoxaluria, primary, type 1
Reference transcriptNM_000030.2
DNA Changec.33delC
A.A. Changep.Lys12Argfs*34
Exon/Intronexon 1
Mutation Typedeletion
ReferenceBoualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A. AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18.

Disease/PhenotypeHyperoxaluria, primary, type 1
Reference transcriptNM_000030.2
DNA Changec.731T>C
A.A. Changep.Ile244Thr
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceBoualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A. AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18.

Disease/PhenotypeHyperoxaluria, primary, type 1
Reference transcriptNM_000030.2
DNA Changec.976delG
A.A. Changep.Val326Tyrfs*15
Exon/Intronexon 10
Mutation Typedeletion
ReferenceBoualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A. AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18.