Abortion (embryonic lethality), EXOSC4-related
Phenotype Details
- Phene ID
- 3915
- Name
- Abortion (embryonic lethality), EXOSC4-related
- Phene Name
- N/A
- OMIA ID
- 2042
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 346 | Abortion (embryonic lethality), EXOSC4 | 388309790 | 1 | 14 | NC_037341.1:g.755826G>A | NM_001078086.2:c.190G>A | NP_001071554.1:p.(R64*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Molecular Genetics
Charlier et al. (2016): nonsense (stop-gain) p.Arg64∗