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_040261.1 (88622194..87975960)||FGF14||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|
|Romney Marsh||Familial episodic ataxia||FGF14||nonsense (stop-gain)||Oar_v3.1||10||g.77593415C>T||c.46C>T||p.Q16*||2017||29253853|
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