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_018732.3 (72995954..72974666)||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.
|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|
|Domestic Shorthair||Vitamin D-deficiency rickets, type Ib||LOC101093889||deletion, small (<=20)||c.1386del||(p.Phe462Leufs*20)||2019||30777056|
|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