OMIA 001978-9913 : Arthrogryposis, distal, type 1B in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYBPC1||myosin binding protein C, slow type||Bos taurus||5||NC_037332.1 (65398196..65500285)||MYBPC1||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|
|Swiss Holstein||Arthrogryposis, distal, type 1B||MYBPC1||missense||UMD3.1||5||g.65787153T>G||c.884T>G||p.L295R||2015||26289121||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2015||Wiedemar, N., Riedi, A.K., Jagannathan, V., Drögemüller, C., Meylan, M. :|
|Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus. J Vet Intern Med 29:1418-21, 2015. Pubmed reference: 26289121. DOI: 10.1111/jvim.13599.|
- Created by Frank Nicholas on 31 Dec 2015
- Changed by Frank Nicholas on 31 Dec 2015