OMIA 001000-9685 : Thrombasthenia in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGA2B||integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)||Felis catus||E1||NC_018736.3 (44424595..44410249)||ITGA2B||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|
|Domestic Shorthair||Glanzmann's thrombasthenia||ITGA2B||deletion, small (<=20)||Felis_catus_9.0||E1||g.44416063del||c.1986delC||p.(P662fs)||ENSFCAT00000003056.6:c.1986delC; p.Pro662fs (Li et al., 2020)||2020||32935881|
|2020||Li, R.H.L., Ontiveros, E., Nguyen, N., Stern, J.A., Lee, E., Hardy, B.T. :|
|Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. J Vet Intern Med :, 2020. Pubmed reference: 32935881. DOI: 10.1111/jvim.15886.|
- Created by Frank Nicholas on 02 Oct 2020
- Changed by Frank Nicholas on 02 Oct 2020