OMIM: 231670Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GCDH |
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| Dna Change: | c.192G>T |
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| Protein Change: | p.Glu64Asp |
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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_000159.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Cyprus | Greek Cypriot | NA | 5 patients/10 patients | NA | Georgiou T et al., 2014Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A, . Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.. Clin. Biochem.. 2014; 47(13):1300-5 |
| Gene/Locus: | GCDH |
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| Dna Change: | c.803G>T |
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| Protein Change: | p.Gly268Val |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_000159.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Cyprus | Greek Cypriot | NA | 5 patients/10 patients | NA | Georgiou T et al., 2014Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A, . Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.. Clin. Biochem.. 2014; 47(13):1300-5 |
References
Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A, Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.Clin. Biochem.. 2014; 47(13):1300-5