Gene Symbol: G6PC
OMIM: 613742Chromosome location: 17q21.31
Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Glycogen storage disease Ia |
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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 |
| Phenotype: | Glycogen storage disease Ia |
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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