OMIA 002271-9913 : Immunodeficiency, IL17RA-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IL17RA||interleukin 17 receptor A||Bos taurus||5||NC_037332.1 (108807812..108823741)||IL17RA||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|
|Holstein||Immunodeficiency, IL17Ra-related||IL17RA||deletion, small (<=20)||ARS-UCD1.2||5||g.108,813,251delC||c.180delC||p.(Cys61AlafsTer62)||XM_015460734.2: c.180delC; XP_015316220.2: p.(Cys61AlafsTer62) (Häfliger et al., 2020)||2020||32448141|
|2020||Häfliger, I.M., Sickinger, M., Holsteg, M., Raeder, L.M., Henrich, M., Marquardt, S., Drögemüller, C., Lühken, G. :|
|An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency BMC Genetics 21:55, 2020. Pubmed reference: 32448141. DOI: 10.1186/s12863-020-00860-4.|
- Created by Frank Nicholas on 26 May 2020
- Changed by Frank Nicholas on 29 May 2020
- Changed by Frank Nicholas on 02 Jun 2020