OMIA 002174-9615 : Congenital dyshormonogenic hypothyroidism with goiter in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC5A5||solute carrier family 5 (sodium/iodide cotransporter), member 5||Canis lupus familiaris||20||NC_006602.3 (45030598..45017939)||SLC5A5||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|
|Shih-Tzu||Congenital dyshormonogenic hypothyroidism with goiter||SLC5A5||splicing||CanFam 3.1||20||g.29777899G>A||Soler Arias et al. (2018): "The splice site mutation predicts loss of exon 10, at a minimum, and a shift of the translation reading frame that predicts 54 amino acids of altered protein sequence before a premature stop codon (UAG) in exon 12"||2018||29777899|
|2018||Soler Arias, E.A., Castillo, V.A., Garcia, J.D., Fyfe, J.C. :|
|Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs. Domest Anim Endocrinol 65:1-8, 2018. Pubmed reference: 29777899. DOI: 10.1016/j.domaniend.2018.04.005.|
- Created by Frank Nicholas on 02 Mar 2019
- Changed by Frank Nicholas on 02 Mar 2019