OMIA 001975-9615 : Neuroaxonal dystrophy, TECPR2-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TECPR2||tectonin beta-propeller repeat containing 2||Canis lupus familiaris||8||NC_051812.1 (70610039..70711934)||TECPR2||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|
|Spanish water dog||Neuroaxonal dystrophy, juvenile||TECPR2||missense||CanFam3.1||8||g.70433320C>T||c.4009C>T||p.R1337W||2015||26555167||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2015||Hahn, K., Rohdin, C., Jagannathan, V., Wohlsein, P., Baumgärtner, W., Seehusen, F., Spitzbarth, I., Grandon, R., Drögemüller, C., Jäderlund, K.H. :|
|TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167. DOI: 10.1371/journal.pone.0141824.|
- Created by Frank Nicholas on 30 Dec 2015
- Changed by Frank Nicholas on 30 Dec 2015