OMIA 002591-9615 : Lysosomal storage disease, CNP-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CNP||2',3'-cyclic nucleotide 3' phosphodiesterase||Canis lupus familiaris||9||NC_051813.1 (21614689..21606902)||CNP||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|1502||Dalmatian||Lysosomal storage disease, CNP-related||CNP||deletion, small (<=20)||Naturally occurring variant||Dog10K_Boxer_Tasha||9||g.20350240del||c.1107del||p.(K370Nfs*11)||ENSCAFT00000102206||2022||35447247|
|2022||Bullock, G., Johnson, G.S., Mhlanga-Mutangadura, T., Petesch, S.C., Thompson, S., Goebbels, S., Katz, M.L. :|
|Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs. Gene 830:146513, 2022. Pubmed reference: 35447247. DOI: 10.1016/j.gene.2022.146513.|
- Created by Imke Tammen2 on 15 Nov 2022
- Changed by Imke Tammen2 on 15 Nov 2022