OMIA 000698-89462 : Myotonia in Bubalus bubalis
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Bubalus bubalis||8||NC_037552.1 (106757987..106795707)||CLCN1||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|
|2013||Borges, A.S., Barbosa, J.D., Resende, L.A., Mota, L.S., Amorim, R.M., Carvalho, T.L., Garcia, J.F., Oliveira-Filho, J.P., Oliveira, C.M., Souza, J.E., Winand, N.J. :|
|Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. Neuromuscul Disord 23:206-13, 2013. Pubmed reference: 23339992. DOI: 10.1016/j.nmd.2012.11.008.|
- Created by Frank Nicholas on 17 Aug 2013
- Changed by Frank Nicholas on 17 Aug 2013