OMIA 002316-9685 : Cardiomyopathy, hypertrophic, ALMS1-related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ALMS1||Alstrom syndrome 1||Felis catus||A3||NC_018725.3 (92291204..92520581)||ALMS1||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|
|Sphynx||Cardiomyopathy, hypertrophic||ALMS1||missense||Felis_catus 9.0||A3||g.92439157G>C||c.7384G>C||p.(G2462R)||cDNA and protein positions have been predicted using Ensemble VEP based on transcript ENSFCAT00000077013.1||2021||33639992|
|2021||Meurs, K.M., Williams, B.G., DeProspero, D., Friedenberg, S.G., Malarkey, D.E., Ezzell, J.A., Keene, B.W., Adin, D.B., DeFrancesco, T.C., Tou, S. :|
|A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis 16:108, 2021. Pubmed reference: 33639992. DOI: 10.1186/s13023-021-01740-5.|
- Created by Imke Tammen2 on 05 Mar 2021