Haplotype with homozygous deficiency HH7, CENPU related
Phenotype Details
- Phene ID
- 3561
- Name
- Haplotype with homozygous deficiency HH7, CENPU related
- Phene Name
- N/A
- OMIA ID
- 1830
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 991 | Abortion due to haplotype HH7 | 388309576 | 1 | 27 | g.15123637_15123640del | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Molecular Genetics
Hozé et al. (2020) reported a likely causal variant for the new HH7 haplotype as being "a 4-bp deletion (Chr27 g.14168130_14168133delTACT) that affects a highly conserved region among mammals".