OMIA 002212-9685 : Cardiomyopathy, hypertrophic, MYH7-related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYH7||myosin, heavy chain 7, cardiac muscle, beta||Felis catus||B3||NC_018728.3 (76187655..76165299)||MYH7||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|
|Domestic Shorthair||Cardiomyopathy, hypertrophic, MYH7-related||MYH7||missense||c.5647G>A||p.(Glu1883Lys)||NM_000257.3:c.5647G>A (p.(Glu1883Lys))||2019||31164718|
|2019||Schipper, T., Van Poucke, M., Sonck, L., Smets, P., Ducatelle, R., Broeckx, B.J.G., Peelman, L.J. :|
|A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. Eur J Hum Genet :, 2019. Pubmed reference: 31164718. DOI: 10.1038/s41431-019-0431-4.|
- Created by Frank Nicholas on 23 Sep 2019
- Changed by Frank Nicholas on 23 Sep 2019