Haplotype with homozygous deficiency HH25, RIOX1-related
Phenotype Details
- Phene ID
- 4953
- Name
- Haplotype with homozygous deficiency HH25, RIOX1-related
- Phene Name
- N/A
- OMIA ID
- 2547
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1442 | Haplotype HH25 deficiency | 398298787 | 1 | 10 | g.84938408_84938437del | c.396_425del | p.(A133_E142del) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein-Friesian, Switzerland (Cattle) | 208 | 9913 | http://purl.obolibrary.org/obo/VBO_0003139 |
Inheritance
Häfliger et al. (2022) reported a 75% deficiency of homozygotes for this haplotype in Swiss Holsteins.