Haplotype with homozygous deficiency NH7, CAD-related
Phenotype Details
- Phene ID
- 4206
- Name
- Haplotype with homozygous deficiency NH7, CAD-related
- Phene Name
- N/A
- OMIA ID
- 2201
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2019
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1087 | Abortion due to haplotype NH7 | 388264777 | 1 | 11 | g.72409143T>C | N/A | p.(Y452C) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Normande (Cattle) | 367 | 9913 | http://purl.obolibrary.org/obo/VBO_0000322 |
Molecular Genetics
Mesbah-Uddin et al. (2019) reported a likely causal variant as a "missense mutation CAD g.72399397T>C (p.Tyr452Cys)"