OMIA 002433-9615 : Thrombopathia, RASGRP2-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RASGRP2||RAS guanyl releasing protein 2 (calcium and DAG-regulated)||Canis lupus familiaris||18||NC_051822.1 (53453534..53467923)||RASGRP2||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|585||Eskimo Spitz||Thrombopathia||RASGRP2||duplication||Naturally occurring variant||CanFam3.1||18||g.52417256dup||c.452dup||p.(D151Efs)||XM_849829.5; XP_854922.1; published as c.452-453insA||2007||17656327|
|477||Basset Hound||Thrombopathia||RASGRP2||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||18||g.52417313_52417315del||c.509_511del||p.(F170del)||XM_849829.5; XP_854922.1||2007||17656327|
|285||Landseer||Thrombopathia||RASGRP2||nonsense (stop-gain)||Naturally occurring variant||CanFam3.1||18||g.52419245C>T||c.982C>T||p.(R328*)||XM_849829.5; XP_854922.1||2007||17656327|
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.
|2008||Boudreaux, MK. :|
|Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc 233:1251-9, 1190, 2008. Pubmed reference: 18922051. DOI: 10.2460/javma.233.8.1251.|
|2007||Boudreaux, MK., Catalfamo, JL., Klok, M. :|
|Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92, 2007. Pubmed reference: 17656327. DOI: 10.1016/j.trsl.2007.03.006.|
|1994||Boudreaux, M.K., Crager, C., Dillon, A.R., Stanz, K., Toiviokinnucan, M. :|
|Identification of an intrinsic platelet function defect in Spitz dogs. Journal of Veterinary Internal Medicine 8:93-98, 1994. Pubmed reference: 8046682.|
|1989||Patterson, W.R., Estry, D.W., Schwartz, K.A., Borchert, R.D., Bell, T.G. :|
|Absent platelet aggregation with normal fibrinogen binding in Basset Hound hereditary thrombopathy. Thrombosis and Haemostasis 62:1011-1015, 1989. Pubmed reference: 2512673.|
|1985||Patterson, W.R., Padgett, G.A., Bell, T.G. :|
|Abnormal release of storage pool adenine nucleotides from platelets of dogs affected with basset hound hereditary thrombopathy. Thromb Res 37:61-71, 1985. Pubmed reference: 3983903.|
|1979||Johnstone, IB., Lotz, F. :|
|An inherited platelet function defect in Basset hounds. Can Vet J 20:211-5, 1979. Pubmed reference: 509382.|
- Created by Imke Tammen2 on 22 Jan 2022