Cardiac malformation, BRI3BP-related
Phenotype Details
- Phene ID
- 6220
- Name
- Cardiac malformation, BRI3BP-related
- Phene Name
- N/A
- OMIA ID
- 2913
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2024
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1766 | Cardiac malformation, BRI3BP-related | 398298971 | 1 | 17 | NC_037344.1:g.50813902C>T | NM_001099087.1:c.478G>A | NP_001092557.1:p.(V160I) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Molecular Genetics
He et al. (2024) investigated a Holstein calf with complex congenital heart defects and carpus valgus: "Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo origin."