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|
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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|
|Mixed breed||Von Willebrand disease III||VWF||duplication||p.Val814LeufsTer3||"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|
|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.|
- Created by Frank Nicholas on 03 Feb 2018
- Changed by Frank Nicholas on 03 Feb 2018