Perinatal lethality, EGFR-related
Phenotype Details
- Phene ID
- 6779
- Name
- Perinatal lethality, EGFR-related
- Phene Name
- N/A
- OMIA ID
- 3037
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2026
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1870 | Perinatal lethality, EGFR-related | 398299085 | 1 | 22 | g.916239C>T | N/A | XP_002696936:p.(V876*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Blonde d'Aquitaine (Cattle) | 97 | 9913 | http://purl.obolibrary.org/obo/VBO_0000151 |
Molecular Genetics
Floriot et al. (2026): "Genetic analysis identified a nonsense variant in the epidermal growth factor receptor (EGFR) gene, XP_002696936:p.Val876Ter, as likely responsible ... ."