OMIA 002450-9913 : Ichthyosis, FA2H-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FA2H||fatty acid 2-hydroxylase||Bos taurus||18||NC_037345.1 (2205766..2151163)||FA2H||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|
|1360||Chianina||Ichthyosis congenita||FA2H||insertion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||18||g.2205625_2205626insG||c.9dupC||p.(A4Rfs*142)||NM_001192455.1; NP_001179384.1||2021||34599683|
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||Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Letko, A., Gentile, A., Drögemüller, C. :|
|A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle. Mol Genet Genomics 296:1313-1322, 2021. Pubmed reference: 34599683. DOI: 10.1007/s00438-021-01824-8.|
|2006||Testoni, S., Zappulli, V., Gentile, A. :|
|Ichthyosis in two Chianina calves. Dtsch Tierarztl Wochenschr 113:351-4, 2006. Pubmed reference: 17009813.|
- Created by Imke Tammen2 on 07 Oct 2021
- Changed by Imke Tammen2 on 07 Oct 2021