Thrombopathia, RASGRP2-related
Phenotype Details
- Phene ID
- 4714
- Name
- Thrombopathia, RASGRP2-related
- Phene Name
- Simmental hereditary thrombopathy; bleeding disorder;
- OMIA ID
- 2433
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2007
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 209 | Thrombopathia | 38906499 | 1 | 29 | NC_037356.1:g.42978791A>G | NM_001099946.1:c.701T>C | NP_001093416.1:p.(L234P) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Swiss Fleckvieh (Cattle) | 1502 | 9913 | http://purl.obolibrary.org/obo/VBO_0000393 |
Molecular Genetics
On the strength of a clear candidate gene in which mutations cause the same disorder in dogs (OMIA 001003-9615), Boudreaux et al. (2007) reported that this disorder in a Simmental calf is due to a missense mutation (c.701T>C) in the CalDAG-GEFI gene which is now called RASGRP2. Jansen et al. (2013) reported that "Sanger sequencing confirmed that all thrombopathic animals are homozygous for the [same] pertinent amino acid exchange (c.701T > C, p.L234P, Chr29:43599204" (UMD3.1 reference coordinates). Aebi et al. (2016) reported the same causal mutation in affected Simmental cattle in Switzerland.