Neurocristopathy
Phenotype Details
- Phene ID
- 4062
- Name
- Neurocristopathy
- Phene Name
- N/A
- OMIA ID
- 2125
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 838 | Neurocristopathy | 388273828 | 1 | 14 | g.26402250_26402254del | N/A | p.(K594Afs*29) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Montbéliarde (Cattle) | 162 | 9913 | http://purl.obolibrary.org/obo/VBO_0000306 |
Molecular Genetics
Bourneuf et al. (2017): a de novo likely causal variant is the frameshift variant p.K594AfsX29