Hyperoxaluria, primary, type 1

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

Mutations

Gene Symbol	AGXT
Reference transcript	NM_000030.2
DNA Change	c.731T>C
A.A. Change	p.Ile244Thr
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Boualla 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.

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Gene Symbol	AGXT
Reference transcript	NM_000030.2
DNA Change	c.33delC
A.A. Change	p.Lys12Argfs*34
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Boualla 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.

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Gene Symbol	AGXT
Reference transcript	NM_000030.2
DNA Change	c.976delG
A.A. Change	p.Val326Tyrfs*15
Exon/Intron	exon 10
Mutation Type	deletion
Reference	Boualla 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.

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Gene Symbol	AGXT
Reference transcript	NM_000030.2
DNA Change	c.331C>T
A.A. Change	p.Arg111*
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Boualla 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.

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