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_006591.3 (49061014..49071474)||INPP5E||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|
|Norwich Terrier||Diffuse cystic renal dysplasia and hepatic fibrosis||INPP5E||splicing||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|
|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.|
- Created by Frank Nicholas on 02 Mar 2019
- Changed by Frank Nicholas on 02 Mar 2019