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DISORDER: Familial adenomatous polyposis coli. ETHNICITY OF PATIENT: Japanese. GENE: APC. GENBANK ACCESSION NUMBER: M 74088. CHROMOSOMAL ASSIGNMENT: 5q21. TYPE OF DNA VARIANT: A germline missense mutation. A germline nonsense mutation. MUTATION: CGG (Arg, wild type) to TGG (Trp) substitution at codon 88 in exon 3 of the APC gene. CGA (Arg, wild type) to TGA (term.) at codon 213 in exon 5 of the APC gene. ALLELIC FREQUENCY: &lt;0.014 (missense mutation, TGG at codon 88). METHOD OF MUTATION DETECTION: PCR-SSCP/direct sequencing.

A Novel Non-pathogenetic Polymorphism of the APC Gene in a Patient with Familial Adenomatous Polyposis Coli