OMIA 002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NME5||non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)||Canis lupus familiaris||11||NC_006593.2 (28809044..28789025)||NME5||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|
|Alaskan Malamute||Ciliary dyskinesia, primary, NME5-related||NME5||deletion, small (<=20)||CanFam3.1||11||g.25792084del||c.43delA||p.(Thr15LeufsTer56)||XM_003639378.4:c.43delA; XP_003639426.1:p.(Thr15LeufsTer56)||2019||31479451|
|2019||Anderegg, L., Im Hof Gut, M., Hetzel, U., Howerth, E.W., Leuthard, F., Kyöstilä, K., Lohi, H., Pettitt, L., Mellersh, C., Minor, K.M., Mickelson, J.R., Batcher, K., Bannasch, D., Jagannathan, V., Leeb, T. :|
|NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet 15:e1008378, 2019. Pubmed reference: 31479451. DOI: 10.1371/journal.pgen.1008378.|
- Created by Frank Nicholas on 10 Sep 2019
- Changed by Frank Nicholas on 10 Sep 2019
- Changed by Tosso Leeb on 10 Sep 2019
- Changed by Frank Nicholas on 11 Sep 2019