OMIA 002022-9913 : Arthrogryposis multiplex congenita, CHRNB1-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CHRNB1||cholinergic receptor, nicotinic beta 1||Bos taurus||19||NC_037346.1 (27121898..27132200)||CHRNB1||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.
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|
|554||Red Danish||Arthrogryposis multiplex congenita, CHRNB1-related||CHRNB1||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||19||g.27122027del||c.55del||p.(A19Pfs47*)||Published as Chr19:27757270CG > C; CHRNB1 c.55delG; (p.Ala19Profs47*)||2016||27364156||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
|2016||Agerholm, J.S., McEvoy, F.J., Menzi, F., Jagannathan, V., Drögemüller, C. :|
|A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. BMC Genomics 17:479, 2016. Pubmed reference: 27364156. DOI: 10.1186/s12864-016-2832-x.|
- Created by Frank Nicholas on 04 Aug 2016
- Changed by Frank Nicholas on 04 Aug 2016