Gene Symbol: APC
OMIM: 611731Chromosome location: 5q22.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Familial adenomatous polyposis 1 |
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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