OMIA 002221-9685 : Vitamin D-deficiency rickets, type IB in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC101093889||vitamin D 25-hydroxylase||Felis catus||D1||NC_058377.1 (71198736..71030684)||LOC101093889||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.
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|
|1137||Domestic Shorthair||Vitamin D-deficiency rickets, type Ib||LOC101093889||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||D1||g.72977336del||c.1386del||p.(F462Lfs*20)||XM_003993015.5; XP_003993064.1; genomic position in accordance with HGVS 3'-rule||2019||30777056||Genomic position in Felis_catus_9.0 provided by Joshua Khamis.|
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||Clarke, K.E., Hurst, E.A., Mellanby, R.J. :|
|Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract 62:935-947, 2021. Pubmed reference: 34323302. DOI: 10.1111/jsap.13401.|
|2019||Teshima, T., Kurita, S., Sasaki, T., Matsumoto, H., Niina, A., Abe, D., Kanno, N., Koyama, H. :|
|A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report. BMC Vet Res 15:62, 2019. Pubmed reference: 30777056. DOI: 10.1186/s12917-019-1784-1.|
- Created by Frank Nicholas on 10 Dec 2019
- Changed by Imke Tammen2 on 16 Jun 2021
- Changed by Imke Tammen2 on 26 Feb 2022