OMIA 001675-61379 : Cone-rod dystrophy 2 in Felis nigripes
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IQCB1||IQ motif containing B1||Felis catus||C2||NC_018731.3 (67734094..67671348)||IQCB1||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|
|Cone-rod dystrophy 2||IQCB1||deletion, small (<=20)||c.1282delCT||p.L428*||2017||28322220|
|2017||Oh, A., Pearce, J.W., Gandolfi, B., Creighton, E.K., Suedmeyer, W.K., Selig, M., Bosiack, A.P., Castaner, L.J., Whiting, R.E., Belknap, E.B., Lyons, L.A. :|
|Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Sci Rep 7:43918, 2017. Pubmed reference: 28322220. DOI: 10.1038/srep43918.|
- Created by Bianca Waud on 24 Mar 2017