Haplotype with homozygous deficiency HH13, KIR2DS1-related
Phenotype Details
- Phene ID
- 3567
- Name
- Haplotype with homozygous deficiency HH13, KIR2DS1-related
- Phene Name
- N/A
- OMIA ID
- 1836
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1440 | Abortion due to haplotype HH13 | 388257301 | 1 | 18 | NC_037345.1:g.62758881G>A | NM_001097567.1:c.475C>T | NP_001091036.1:p.(Q159*) |
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 that "no single homozygous carrier of the . . . KIR2DS1 . . . [variant] was observed neither in the current population of more than 14 thousand Swiss dairy cattle nor in any other breed of cattle included in the 1000 Bull Genomes project".
Molecular Genetics
Based on strong evidence obtained in Swiss Holsteins, Häfliger et al (2022) proposed KIR2DS1:p.Gln159* as the likely causal variant for haplotype HH13.