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_051809.1 (75580429..75594782)||LOC489707||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.
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|
|108||Labrador Retriever||Macular corneal dystrophy||LOC489707||missense||Naturally occurring variant||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.
|2019||Busse, C., Kafarnik, C., Linn-Pearl, R., Volmer, C., Matiasek, K., Premont, J.E., Dulaurent, T., Douet, J.Y., Gilbert, I., Jalomäki, S., Trost, K., Isard, P.F., Boyd, R., Raymond, I. :|
|Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study. Vet Ophthalmol 22:294-304, 2019. Pubmed reference: 30701649. DOI: 10.1111/vop.12596.|
|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
- Changed by Frank Nicholas on 18 Jun 2020