OMIA 002029-9913 : Retinitis pigmentosa 1 in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
RP1 | retinitis pigmentosa 1 (autosomal dominant) | Bos taurus | 14 | NC_037341.1 (22335447..22344612) | RP1 | Homologene, Ensembl, NCBI gene |
Variants
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
611 | Angus Belgian Blue Charolais Gelbvieh Holstein Maine Anjou Normande Red Angus | Retinitis pigmentosa 1 | RP1 | insertion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 14 | g.22340665_22340666insA | p.(R791Kfs*13) | 2016 | 27510606 |
Reference
2016 | Michot, P., Chahory, S., Marete, A., Grohs, C., Dagios, D., Donzel, E., Aboukadiri, A., Deloche, M.C., Allais-Bonnet, A., Chambrial, M., Barbey, S., Genestout, L., Boussaha, M., Danchin-Burge, C., Fritz, S., Boichard, D., Capitan, A. : | |
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. Genet Sel Evol 48:56, 2016. Pubmed reference: 27510606. DOI: 10.1186/s12711-016-0232-y. |
Edit History
- Created by Frank Nicholas on 11 Aug 2016
- Changed by Frank Nicholas on 11 Aug 2016