OMIA 002216-9544 : Bardet-Biedl syndrome 7 in Macaca mulatta
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BBS7||Bardet-Biedl syndrome 7||Macaca mulatta||5||NC_041758.1 (119710696..119654868)||BBS7||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|
|Bardet-Biedl syndrome 7||BBS7||deletion, small (<=20)||Mmul_8.0.1||c.160delG||p.(Ala54fs)||2019||31589838|
|2019||Peterson, S.M., McGill, T.J., Puthussery, T., Stoddard, J., Renner, L., Lewis, A.D., Colgin, L.M.A., Gayet, J., Wang, X., Prongay, K., Cullin, C., Dozier, B., Ferguson, B., Neuringer, M. :|
|Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. Exp Eye Res 189:107825, 2019. Pubmed reference: 31589838. DOI: 10.1016/j.exer.2019.107825.|
- Created by Frank Nicholas on 22 Oct 2019
- Changed by Frank Nicholas on 22 Oct 2019