OMIA 002173-9615 : Diffuse cystic renal dysplasia and hepatic fibrosis in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
INPP5E | inositol polyphosphate-5-phosphatase E | Canis lupus familiaris | 9 | NC_051813.1 (49937770..49948230) | INPP5E | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1034 | Norwich Terrier | Diffuse cystic renal dysplasia and hepatic fibrosis | INPP5E | splicing | Naturally occurring variant | CanFam3.1 | 9 | g.49069064G>A | c.1572+5G>A | Dillard et al. (2018): "the identified variant introduces a novel splice site in INPP5E causing a frameshift and formation of a premature stop codon." | 2018 | 30235266 |
Reference
2018 | Dillard, K.J., Hytönen, M.K., Fischer, D., Tanhuanpää, K., Lehti, M.S., Vainio-Siukola, K., Sironen, A., Anttila, M. : | |
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PLoS One 13:e0204073, 2018. Pubmed reference: 30235266. DOI: 10.1371/journal.pone.0204073. |
Edit History
- Created by Frank Nicholas on 02 Mar 2019
- Changed by Frank Nicholas on 02 Mar 2019