OMIA 002195-9615 : Cardiomyopathy, dilated, PLN-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLN||phospholamban||Canis lupus familiaris||1||NC_006583.3 (58579095..58590541)||PLN||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|
|Welsh springer spaniel||Cardiomyopathy, dilated, PLN-related||PLN||missense||1||g.58,588,129G>A||c.26G>A||p.(R9H)||2019||30794913||c. coordinate kindly provided by Tosso Leeb|
|2019||Yost, O., Friedenberg, S.G., Jesty, S.A., Olby, N.J., Meurs, K.M. :|
|The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene 697:118-122, 2019. Pubmed reference: 30794913. DOI: 10.1016/j.gene.2019.02.022.|
- Created by Frank Nicholas on 15 May 2019
- Changed by Frank Nicholas on 15 May 2019