OMIA 002137-9615 : Nemaline myopathy, NEB-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NEB||nebulin||Canis lupus familiaris||19||NC_006601.3 (52921064..52720427)||NEB||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|
|American Bulldog||Nemaline myopathy, NEB-related||NEB||nonsense (stop-gain)||CanFam3.1||g.52734272C>A||p.S8042*||2016||27215641|
|2016||Evans, J.M., Cox, M.L., Huska, J., Li, F., Gaitero, L., Guo, L.T., Casal, M.L., Granzier, H.L., Shelton, G.D., Clark, L.A. :|
|Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mamm Genome 27:495-502, 2016. Pubmed reference: 27215641. DOI: 10.1007/s00335-016-9644-9.|
- Created by Frank Nicholas on 24 Jan 2018