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

Hyperoxaluria, primary, type 1

OMIM:259900
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolAGXT
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.

Gene SymbolAGXT
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.

Gene SymbolAGXT
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.

Gene SymbolAGXT
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.