OMIA 002151-9615 : Microphthalmia, isolated, with coloboma in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
RBP4 | retinol binding protein 4, plasma | Canis lupus familiaris | 28 | NC_051832.1 (8090965..8083216) | RBP4 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
993 | Irish soft-coated wheaten terrier | Microphthalmia, isolated, with coloboma | RBP4 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 28 | g.7830265_7830267del | c.90_92del | p.(K31del) | XM_534969.6; XP_534969.3; published as c.282_284delGAA and p.(K30del); coordinates in the table have been updated to a recent reference genome and transcript, and are in accordance with the HGVS 3'-rule | 2018 | 29847795 |
Reference
2018 | Kaukonen, M., Woods, S., Ahonen, S., Lemberg, S., Hellman, M., Hytönen, M.K., Permi, P., Glaser, T., Lohi, H. : | |
Maternal inheritance of a recessive RBP4 defect in canine congenital eye disease. Cell Rep 23:2643-2652, 2018. Pubmed reference: 29847795. DOI: 10.1016/j.celrep.2018.04.118. |
Edit History
- Created by Frank Nicholas on 13 Jun 2018
- Changed by Frank Nicholas on 13 Jun 2018