OMIA 002203-9615 : Ehlers-Danlos syndrome, classic-like, 1 in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
TNXB | tenascin XB | Canis lupus familiaris | 12 | NC_051816.1 (1648746..1595038) | TNXB | Homologene, Ensembl, NCBI gene |
Variants
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Chihuahua Poodle | Ehlers-Danlos syndrome, classic-like, 1 | TNXB | missense | CanFam 3.1 | 12 | g.1,490,385C>T | c.2900G>A | p.(Gly967Asp) | XM_003431680.3:c.2900G>A, p.(Gly967Asp) | 2019 | 31365140 | |||
Mixed breed | Ehlers-Danlos syndrome, classic-like, 1 | TNXB | missense | CanFam3.1 | 12 | g.1,499,124C>T | c.2012G>A | p.(Ser671Asn) | XM_003431680.3: c.2012G>A, p.(Ser671Asn) | 2019 | 31365140 |
Reference
2019 | Bauer, A., de Lucia, M., Leuthard, F., Jagannathan, V., Leeb, T., Bauer, A., de Lucia, M., Leuthard, F., Jagannathan, V., Leeb, T. : | |
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet 50:546-549, 2019. Pubmed reference: 31365140. DOI: 10.1111/age.12830. |
Edit History
- Created by Frank Nicholas on 05 Aug 2019
- Changed by Frank Nicholas on 05 Aug 2019
- Changed by Frank Nicholas on 07 Aug 2019