Brachygnathia, WNT10B-related
Phenotype Details
- Phene ID
- 5559
- Name
- Brachygnathia, WNT10B-related
- Phene Name
- N/A
- OMIA ID
- 2759
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2023
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1618 | Brachygnathia | 388275767 | Unknown | 5 | NC_037332.1:g.30846510dup | XM_010805029.3:c.910dup | XP_010803331.1:p.R304Pfs*14 |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
Molecular Genetics
Widmer et al. (2023): "A breed specific frameshift duplication in WNT10B (rs525007739; c.910dupC; p.Arg304ProfsTer14) ... was found to be associated with a 21.5-fold increased risk of brachygnathia inferior in homozygous [Brwon Swiss] carriers."