OMIA 002295-9913 : classical Ehlers-Danlos syndrome (cEDS), COL5A2-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL5A2||collagen type V alpha 2||Bos taurus||2||NC_037329.1 (7198093..7358813)||COL5A2||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.
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|
|1263||Holstein||Ehlers-Danlos syndrome, classic type, 2||COL5A2||missense||Naturally occurring variant||ARS-UCD1.2||2||g.7331916G>T||c.2366G>T||p.(G789V)||XM_024979774.1: c.2366G>T; XP_024835542.1: p.Gly789Val (Jacinto et al., 2020)||2020||33143196|
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.
|2021||Roberts, J.H., Halper, J. :|
|Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427. DOI: 10.1007/978-3-030-80614-9_15.|
|Vroman, R., Malfait, A.M., Miller, R.E., Malfait, F., Syx, D. :|
|Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet 12:726474, 2021. Pubmed reference: 34712265. DOI: 10.3389/fgene.2021.726474.|
|2020||Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Letko, A., Benazzi, C., Bolcato, M., Drögemüller, C. :|
|A Heterozygous Missense Variant in the <i>COL5A2</i> in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome. Animals (Basel) 10:, 2020. Pubmed reference: 33143196. DOI: 10.3390/ani10112002.|
|Malfait, F., Castori, M., Francomano, C.A., Giunta, C., Kosho, T., Byers, P.H. :|
|The Ehlers-Danlos syndromes. Nat Rev Dis Primers 6:64, 2020. Pubmed reference: 32732924. DOI: 10.1038/s41572-020-0194-9.|
- Created by Frank Nicholas on 31 Oct 2020
- Changed by Frank Nicholas on 31 Oct 2020
- Changed by Frank Nicholas on 04 Nov 2020
- Changed by Tosso Leeb on 02 Jun 2022