OMIA 001574-9615 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RAG1||recombination activating gene 1||Canis lupus familiaris||18||NC_006600.3 (31639980..31628231)||RAG1||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|
|Frisian Water Dog||Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive||RAG1||nonsense (stop-gain)||CanFam3.1||18||g.31631772G>T||c.2893G>T||p.E965*||2011||21293384||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2011||Verfuurden, B., Wempe, F., Reinink, P., van Kooten, PJ., Martens, E., Gerritsen, R., Vos, JH., Rutten, VP., Leegwater, PA. :|
|Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384. DOI: 10.1038/gene.2011.6.|
- Created by Frank Nicholas on 13 Jul 2011
- Changed by Frank Nicholas on 10 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 31 Mar 2016
- Changed by Frank Nicholas on 28 Aug 2016