Abortion (embryonic lethality), TTF1-related
Phenotype Details
- Phene ID
- 3909
- Name
- Abortion (embryonic lethality), TTF1-related
- Phene Name
- N/A
- OMIA ID
- 2036
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 345 | Abortion (embryonic lethality), TTF1 | 388271952 | 1 | 11 | NC_037338.1:g.102463944G>A | NM_001102083.1:c.1579G>A | NP_001095553.1:p.(R527*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Molecular Genetics
Charlier et al. (2016): nonsense (stop-gain) p.Arg527∗