OMIA 001058-9823 : Von Willebrand disease III in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|VWF||von Willebrand factor||Sus scrofa||5||NC_010447.5 (64516627..64655938)||VWF||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|
|969||Mixed breed (duplicate)||Von Willebrand disease III||VWF||duplication||Naturally occurring variant||5||p.(V814Lfs*3)||"a tandem duplication of exons 17 and 18, causing a frameshift and a premature termination codon (p.Val814LeufsTer3) . . . This duplication putatively originates from porcine SINE elements located within VWF introns 16 and 18 with high identity.||2017||29208651|
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||Arruda, V.R., Weber, J., Samelson-Jones, B.J. :|
|Gene therapy for inherited bleeding disorders. Semin Thromb Hemost 47:161-173, 2021. Pubmed reference: 33636747. DOI: 10.1055/s-0041-1722862.|
|2019||Allerkamp, H., Lehner, S., Ekhlasi-Hundrieser, M., Detering, C., von Depka Prondzinski, M., Pfarrer, C. :|
|Expression of angiogenic factors in the uteroplacental unit is altered at time of placentation in a porcine model of von Willebrand disease type 1. Reprod Biol 19:412-420, 2019. Pubmed reference: 31806575. DOI: 10.1016/j.repbio.2019.09.007.|
|Allerkamp, H., Lehner, S., Ekhlasi-Hundrieser, M., Detering, C., Pfarrer, C., von Depka Prondzinski, M. :|
|Characterization of a porcine model for von Willebrand disease type 1 and 3 regarding expression of angiogenic mediators in the nonpregnant female reproductive tract. Comp Med :, 2019. Pubmed reference: 31526432. DOI: 10.30802/AALAS-CM-19-000003.|
|2017||Lehner, S., Ekhlasi-Hundrieser, M., Detering, C., Allerkamp, H., Pfarrer, C., von Depka Prondzinski, M. :|
|A 12.3 kb duplication within the VWF gene in pigs affected by von Willebrand disease type 3. G3 (Bethesda) :, 2017. Pubmed reference: 29208651. DOI: 10.1534/g3.117.300432.|
|1999||Denis, C.V., Wagner, D.D. :|
|Insights from von Willebrand disease animal models. Cell Mol Life Sci 56:977-90, 1999. Pubmed reference: 11212329. DOI: 10.1007/s000180050487.|
- Created by Frank Nicholas on 03 Feb 2018
- Changed by Frank Nicholas on 03 Feb 2018
- Changed by Frank Nicholas on 20 Sep 2019
- Changed by Imke Tammen2 on 28 Aug 2021
- Changed by Imke Tammen2 on 10 Sep 2021