OMIA 001461-9823 : Gangliosidosis, GM2, type I (B variant) in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEXA||hexosaminidase A (alpha polypeptide)||Sus scrofa||7||NC_010449.5 (60878531..60911537)||HEXA||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|1318||Wild boar||Gangliosidosis, GM2, type I||HEXA||missense||Naturally occurring variant||Sscrofa11.1||7||g.60910365C>T||c.1495C>T||p.(R499C)||cDNA positions based on NM_001123221.1||2021||34119419|
|2021||Bertani, V., Prioni, S., Di Lecce, R., Gazza, F., Ragionieri, L., Merialdi, G., Bonilauri, P., Jagannathan, V., Grassi, S., Cabitta, L., Paoli, A., Morrone, A., Sonnino, S., Drögemüller, C., Cantoni, A.M. :|
|A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease. Mol Genet Metab :, 2021. Pubmed reference: 34119419. DOI: 10.1016/j.ymgme.2021.05.001.|
- Created by Imke Tammen2 on 16 Jun 2021
- Changed by Imke Tammen2 on 16 Jun 2021