OMIM: 232200Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | G6PC |
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| Dna Change: | c.247C>T |
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| Protein Change: | p.Arg83Cys |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000151.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 19% (allele frequency) | NA | Chevalier-Porst F et al., 1996Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I, . Mutation analysis in 24 French patients with glycogen storage disease type 1a.. J. Med. Genet.. 1996; 33(5):358-60 |
| Tunisia | NA | NA | 66.6% (allele frequency) | NA | Barkaoui E et al., 2007Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF, . Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.. J. Inherit. Metab. Dis.. 2007; 30(6):989 |
| Gene/Locus: | G6PC |
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| Dna Change: | c.509G>A |
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| Protein Change: | p.Arg170Gln |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 4 |
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| Transcript: | NM_000151.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 27.7% (allele frequency) | NA | Barkaoui E et al., 2007Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF, . Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.. J. Inherit. Metab. Dis.. 2007; 30(6):989 |
References
Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF, Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.J. Inherit. Metab. Dis.. 2007; 30(6):989
Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I, Mutation analysis in 24 French patients with glycogen storage disease type 1a.J. Med. Genet.. 1996; 33(5):358-60