OMIA 000698-9940 : Myotonia in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Ovis aries||4||NC_056057.1 (107922466..107959090)||CLCN1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|245||Rasa Aragonesa||Myotonia||CLCN1||missense||Naturally occurring variant||Oar_rambouillet_v1.0||4||g.115541101G>A||c.277G>A||p.(E93K)||Oar_v3.1 position is g.106140081G>A published as p.Gln93Lys. cDNA and protein position predicted using Variant Effect Predictor ENSOART00020002372.1||rs401726021||2015||25744800||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2015||Monteagudo, L.V., Tejedor, M.T., Ramos, J.J., Lacasta, D., Ferrer, L.M. :|
|Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene. Vet J 204:128-9, 2015. Pubmed reference: 25744800. DOI: 10.1016/j.tvjl.2015.01.014.|
|1997||Moore, G.A., Dyer, K.R., Dyer, R.M., Sponenberg, D.P. :|
|Autosomal recessive myotonia congenita in sheep Genetics Selection Evolution 29:291-294, 1997.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 08 Mar 2015