OMIA 001916-9615 : Familial adenomatous polyposis in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|APC||adenomatous polyposis coli||Canis lupus familiaris||3||NC_051807.1 (224101..93843)||APC||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Jack Russell Terrier||Familial Adenomatous Polyposis||APC||delins, small (<=20)||CanFam3.1||3||g.312131_312132delinsTT||c.[462_463delinsTT]||p.(K155X)||NC_006585.3 c.[462_463delinsTT]||2020||32445578||Reference assembly and genomic location and cDNA reference ID kindly provided by Kyoko Yoshizaki, 17 Dec 2020|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Yoshizaki, K., Hirata, A., Matsushita, H., Nishii, N., Kawabe, M., Mori, T., Sakai, H. :|
|PCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers. BMC Vet Res 17:32, 2021. Pubmed reference: 33461531. DOI: 10.1186/s12917-020-02731-7.|
|2020||Yoshizaki, K., Hirata, A., Nishii, N., Kawabe, M., Goto, M., Mori, T., Sakai, H. :|
|Familial Adenomatous Polyposis in Dogs: Hereditary Gastrointestinal Polyposis in Jack Russell Terriers with Germline APC Mutations. Carcinogenesis :, 2020. Pubmed reference: 32445578. DOI: 10.1093/carcin/bgaa045.|
- Created by Frank Nicholas on 02 Jun 2020
- Changed by Frank Nicholas on 22 Jan 2021