OMIA 002522-9615 : Ataxia, HACE1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HACE1||HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1||Canis lupus familiaris||12||NC_051816.1 (63187531..63079955)||HACE1||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|
|1421||Norwegian Elkhound||Ataxia, HACE1-related||HACE1||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||12||g.62282767del||c.1001del||p.(G334Vfs*34)||ENSCAFT00000072236.1; ENSCAFP00000049888.1||2022||35061740|
|2022||Bellamy, K.K.L., Skedsmo, F.S., Hultman, J., Arnet, E.F., Guttersrud, O.A., Skogmo, H.K., Thoresen, S.I., Espenes, A., Jäderlund, K.H., Lingaas, F. :|
|A 1 bp deletion in HACE1 causes ataxia in Norwegian elkhound, black. PLoS One 17:e0261845, 2022. Pubmed reference: 35061740. DOI: 10.1371/journal.pone.0261845.|
- Created by Imke Tammen2 on 29 Jan 2022