OMIA 002071-9615 : Macular corneal dystrophy in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC489707||carbohydrate sulfotransferase 6||Canis lupus familiaris||5||NC_006587.3 (75266932..75280790)||LOC489707||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.
|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|
|Labrador Retriever||Macular corneal dystrophy||LOC489707||missense||CanFam3.1||5||g.75279699C>A||c.814C>A||p.R272S||2016||26585178||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2016||Tetas Pont, R., Downs, L., Pettitt, L., Busse, C., Mellersh, C.S. :|
|A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol 19:488-492, 2016. Pubmed reference: 26585178. DOI: 10.1111/vop.12332.|
|2013||Busse, C., Kafarnik, C., Tetas, R. et al. :|
|Case report: A form of macular corneal dystrophy in a Labrador retriever. Abstract presentation in European College of Veterinary Ophthalmologists :, 2013.|
- Created by Frank Nicholas on 08 Nov 2016
- Changed by Frank Nicholas on 08 Nov 2016
- Changed by Frank Nicholas on 26 Oct 2017