Factor XIII deficiency, F13A1-related
Phenotype Details
- Phene ID
- 3543
- Name
- Factor XIII deficiency, F13A1-related
- Phene Name
- N/A
- OMIA ID
- 1818
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1996
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1532 | Factor XIII deficiency | 388309584 | 1 | 23 | g.48649432T>C | c.248T>C | p.(F83S) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
| Japanese Brown, Japan (Cattle) | 330 | 9913 | http://purl.obolibrary.org/obo/VBO_0004988 |
Molecular Genetics
Shibutani et al. (2023) list a causal variant for F13 deficiency in Japanese Black cattle in the F13A1 gene as BTA23:g.48649432T>C, c.248T>C; p.F83S based on the publication by Ogawa and Iga (1996). Matsumoto et al. (2023) detected this variant in the Kumamoto sub-breed of Japanese Brown cattle.