Abortion (embryonic lethality), OBFC1-related
Phenotype Details
- Phene ID
- 3908
- Name
- Abortion (embryonic lethality), OBFC1-related
- Phene Name
- N/A
- OMIA ID
- 2035
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 555 | Abortion (embryonic lethality), OBFC1-related | 388269305 | 1 | 26 | g.24461804_24461805del | c.379_380del | p.(K127Vfs*29) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
Molecular Genetics
Charlier et al. (2016): frame-shift p.Lys127Valfsā28