OMIM: 143100Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | HTT |
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| Dna Change: | 7-CCG repeat |
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| Protein Change: | |
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| Mutation Type: | Sequence repeat |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | NM_002111.7 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | The Land of Valencia, in Eastern Spain | NA | between 4,700 and 10,000 years ago | García-Planells J et al., 2005García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C, . Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.. Hum. Mutat.. 2005; 25(5):453-9 |
References
García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C, Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.Hum. Mutat.. 2005; 25(5):453-9