OMIA 002207-9615 : Bernard-Soulier syndrome, type C in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GP9||glycoprotein IX (platelet)||Canis lupus familiaris||20||NC_006602.3 (3029496..3027790)||GP9||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|
|Cocker Spaniel||Bernard-Soulier syndrome, type C||GP9||deletion, gross (>20)||CanFam 3.1||20||g.3,025,814_3,028,273del2460||Gentilini et al. (2019): "The deletion truncates 104 (71%) of the 146 codons of the wildtype canine reading frame."||2019||31484196|
|2019||Gentilini, F., Turba, M.E., Giancola, F., Chiocchetti, R., Bernardini, C., Dajbychova, M., Jagannathan, V., Drögemüller, M., Drögemüller, C. :|
|A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS One 14:e0220625, 2019. Pubmed reference: 31484196. DOI: 10.1371/journal.pone.0220625.|
- Created by Frank Nicholas on 12 Sep 2019
- Changed by Frank Nicholas on 12 Sep 2019