OMIA 001501-9615 : Dilute coat color with neurological defects in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYO5A||myosin VA||Canis lupus familiaris||30||NC_051834.1 (18328524..18136193)||MYO5A||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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1372||Miniature dachshund||Coat colour dilution and neurological defects||MYO5A||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||30||g.18004551_18004552insT||c.4973_4974insA||p.(N1658Kfs*28).||cDNA and protein positions based on XM_022412522.1 and XP_022268230.1, respectively||2021||34680875|
|2021||Christen, M., de le Roi, M., Jagannathan, V., Becker, K., Leeb, T. :|
|<i>MYO5A</i> Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes (Basel) 12:1479, 2021. Pubmed reference: 34680875. DOI: 10.3390/genes12101479.|
- Created by Tosso Leeb on 15 Sep 2021
- Changed by Imke Tammen2 on 29 Oct 2021