OMIA 002336-9615 : Deafness, LOXHD1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LOXHD1||lipoxygenase homology domains 1||Canis lupus familiaris||7||NC_051811.1 (44615788..44781462)||LOXHD1||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|
|1314||Rottweiler||Nonsyndromic hearing loss||LOXHD1||missense||Naturally occurring variant||CanFam3.1||7||g.44806821G>C||c.5747G>C||p.(G1914A)||XM_022421426.1, c.5747G>C; J9PAE4, p.(G1914A) (Hytönen et al., 2021)||2021||33983508|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Hytönen, M.K., Niskanen, J.E., Arumilli, M., Brookhart-Knox, C.A., Donner, J., Lohi, H. :|
|Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss. Hum Genet 140:1611-18, 2021. Pubmed reference: 33983508. DOI: 10.1007/s00439-021-02286-z.|
|2001||Coppens, A.G., Kiss, R., Heizmann, C.W., Deltenre, P., Poncelet, L. :|
|An original inner ear neuroepithelial degeneration in a deaf Rottweiler puppy. Hear Res 161:65-71, 2001. Pubmed reference: 11744282. DOI: 10.1016/s0378-5955(01)00354-9.|
|1996||Strain, G.M. :|
|Aetiology, prevalence and diagnosis of deafness in dogs and cats [Review] British Veterinary Journal 152:17-36, 1996. Pubmed reference: 8634862.|
- Created by Frank Nicholas on 15 May 2021