Haplotype with homozygous deficiency HH35, PCDH15-related
Phenotype Details
- Phene ID
- 4954
- Name
- Haplotype with homozygous deficiency HH35, PCDH15-related
- Phene Name
- N/A
- OMIA ID
- 2548
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1443 | Deficiency of haplotype HH35 | 388997913 | 1 | 26 | NC_037353.1:g.5325675C>G | XM_059881970.1:c.2599C>G | XP_059737953.1:p.(L867V) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Inheritance
Häfliger et al. (2022) reported a 77% deficiency of homozygotes for this haplotype in Swiss Holsteins.
Molecular Genetics
Based on strong evidence from Swiss Holsteins, Häfliger et al. (2022) reported PCDH15; c.2599C>G as a likely causal variant for this harmful haplotype.