OMIA 001723-9940 : Ataxia, familial episodic spinocerebellar in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGF14||fibroblast growth factor 14||Ovis aries||10||NC_056063.1 (78113502..77474175)||FGF14||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|
|941||Romney Marsh||Familial episodic ataxia||FGF14||nonsense (stop-gain)||Naturally occurring variant||Oar_rambouillet_v1.0||10||g.88095843G>A||c.46C>T||p.(Q16*)||Oar_v3.1 position is g.77593415||2017||29253853||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.
|2017||Dittmer, K.E., Jolly, R.D., Mayhew, I.G., Ridler, A.L., Chernyavtseva, A., Garrick, D.J., Blair, H.T. :|
|Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. PLoS One 12:e0190030, 2017. Pubmed reference: 29253853. DOI: 10.1371/journal.pone.0190030.|
|2013||Mayhew, I.G., Jolly, R.D., Burnham, D., Ridler, A.I., Poff, G.J., Blair, H.T. :|
|Familial episodic ataxia in lambs. N Z Vet J 61:107-10, 2013. Pubmed reference: 22985028. DOI: 10.1080/00480169.2012.717501.|
- Created by Frank Nicholas on 17 Oct 2012
- Changed by Frank Nicholas on 19 Jan 2018
- Changed by Imke Tammen2 on 10 Sep 2021