OMIA 001672-9615 : Hyperoxaluria, primary, type I (Oxalosis I) in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOC607355||serine--pyruvate aminotransferase, mitochondrial||Canis lupus familiaris||25||NC_006607.3 (50717157..50725297)||LOC607355||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|
|Coton de Tulear||Primary hyperoxaluria type I (Oxalosis I)||AGXT||missense||CanFam3.1||25||g.50968854G>A||c.304G>A||p.G102S||2012||22486513||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2012||Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. :|
|Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111/j.1365-2052.2011.02260.x.|
|1991||Danpure, C.J., Jennings, P.R., Jansen, J.H. :|
|Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta 1096:134-8, 1991. Pubmed reference: 1672096.|
|1990||Jansen, J.H., Arnesen, K. :|
|Oxalate nephropathy in a Tibetan spaniel litter. A probable case of primary hyperoxaluria. J Comp Pathol 103:79-84, 1990. Pubmed reference: 2394849.|
- Created by Frank Nicholas on 04 Dec 2011
- Changed by Frank Nicholas on 04 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011