OMIM: 175100Inheritance: Autosomal dominant
Classification: Neoplasms
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | APC |
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| Dna Change: | 3221_3225delACAAA (5-BP DEL) |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | |
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| Transcript: | |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | The Balearic Islands | 50% (6 families/12 families) | NA | González S et al., 2005González S, Blanco I, Campos O, Julià M, Reyes J, Llompart A, Cabeza E, Germà JR, Obrador A, Capellá G, . Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.. Cancer Genet. Cytogenet.. 2005; 158(1):70-4 |
References
González S, Blanco I, Campos O, Julià M, Reyes J, Llompart A, Cabeza E, Germà JR, Obrador A, Capellá G, Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.Cancer Genet. Cytogenet.. 2005; 158(1):70-4