OMIA 001887-9913 : Osteopetrosis with gingival hamartomas in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN7||chloride channel, voltage-sensitive 7||Bos taurus||25||NC_037352.1 (1158736..1138163)||CLCN7||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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Belgian Blue||Osteopetrosis with gingival hamartomas||CLCN7||missense||ARS-UCD1.2||25||g.[1139611G>T; 1139613A>G]||c.[2248T>C;2250C>A]||p.(Y750Q)||2014||24159188||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
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||Jacinto, J.G., Bolcato, M., Sheahan, B.J., Muscatello, L.V., Gentile, A., Avallone, G., Benazzi, C. :|
|Congenital tumours and tumour-like lesions in calves: a review. J Comp Pathol 184:84-94, 2021. Pubmed reference: 33894884. DOI: 10.1016/j.jcpa.2021.02.003.|
|2014||Sartelet, A., Stauber, T., Coppieters, W., Ludwig, C.F., Fasquelle, C., Druet, T., Zhang, Z., Ahariz, N., Cambisano, N., Jentsch, T.J., Charlier, C. :|
|A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle. Dis Model Mech 7:119-28, 2014. Pubmed reference: 24159188. DOI: 10.1242/dmm.012500.|
- Created by Frank Nicholas on 28 Oct 2013
- Changed by Frank Nicholas on 28 Oct 2013
- Changed by Frank Nicholas on 15 Sep 2014
- Changed by Frank Nicholas on 16 Aug 2016
- Changed by Imke Tammen2 on 17 Aug 2021