OMIA 002090-9913 : Facial dysplasia syndrome in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGFR2||fibroblast growth factor receptor 2||Bos taurus||26||NC_037353.1 (41558088..41450677)||FGFR2||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.
|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|
|Holstein||Facial dysplasia syndrome||FGFR2||missense||UMD3.1||26||g.41861956G>T||c.927G>T||p.Trp309Cys||2017||28768473||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2017||Agerholm, J.S., McEvoy, F.J., Heegaard, S., Charlier, C., Jagannathan, V., Drögemüller, C. :|
|A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle. BMC Genet 18:74, 2017. Pubmed reference: 28768473. DOI: 10.1186/s12863-017-0541-3.|
- Created by Frank Nicholas on 19 Jan 2017
- Changed by Frank Nicholas on 09 Aug 2017