OMIA 002165-9615 : Ehlers-Danlos syndrome, classic type, 1 in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
COL5A1 | collagen, type V, alpha 1 | Canis lupus familiaris | 9 | NC_051813.1 (51583512..51733920) | COL5A1 | Homologene, Ensembl, NCBI gene |
Variants
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Labrador Retriever | Ehlers-Danlos syndrome, classic type, 1 | COL5A1 | deletion, small (<=20) | CanFam3.1 | 9 | g.50806169delG | c.3038delG | p.(Gly1013ValfsTer260) | XM_022423936.1,c.3038delG. This "variant arose by a de novo mutation event during the development of the mother." (Bauer et al., 2019) | 2019 | 31546637 | |||
Mixed breed | Ehlers-Danlos syndrome, classic type, 1 | COL5A1 | missense | CanFam3.1 | 9 | g.50832936G>A | c.4711G>A | p.(Gly1571Arg) | XM_022423936.1,c.4711G>A; XP_022279644.1,p.(Gly1571Arg) | 2019 | 31546637 |
Reference
2019 | Bauer, A., Bateman, J.F., Lamandé, S.R., Hanssen, E., Kirejczyk, S.G.M., Yee, M., Ramiche, A., Jagannathan, V., Welle, M., Leeb, T., Bateman, F.L. : | |
Identification of Two Independent <i>COL5A1</i> Variants in Dogs with Ehlers-Danlos Syndrome. Genes (Basel) 10:, 2019. Pubmed reference: 31546637. DOI: 10.3390/genes10100731. |
Edit History
- Created by Frank Nicholas on 26 Sep 2019
- Changed by Frank Nicholas on 26 Sep 2019
- Changed by Tosso Leeb on 26 Sep 2019