AGXT
Gene name: alanine-glyoxylate aminotransferaseOMIM ID: 604285
Chromosome location: 2q37.3
Mutations
| Disease/Phenotype | Hyperoxaluria, primary, type 1 |
|---|---|
| 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. |
| Disease/Phenotype | Hyperoxaluria, primary, type 1 |
|---|---|
| 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. |
| Disease/Phenotype | Hyperoxaluria, primary, type 1 |
|---|---|
| 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. |
| Disease/Phenotype | Hyperoxaluria, primary, type 1 |
|---|---|
| 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. |