OMIM: 213700Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CYP27A1 |
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| Dna Change: | c.1183C>T |
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| Protein Change: | p.Arg395Cys |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_000784.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | NA | 33% | NA | Pilo-de-la-Fuente B et al., 2011Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ, . Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.. Eur. J. Neurol.. 2011; 18(10):1203-11 |
References
Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ, Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.Eur. J. Neurol.. 2011; 18(10):1203-11