Hepatocellular fibrinogen storage disease
Phenotype Details
- Phene ID
- 5036
- Name
- Hepatocellular fibrinogen storage disease
- Phene Name
- N/A
- OMIA ID
- 2582
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2023
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1624 | Hepatic fibrinogen storage disease | 388270698 | 1 | 1 | NC_037328.1:g.81082187C>T | XM_002684869.5:c.2162C>T | XP_002684915.3:p.T721I |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Molecular Genetics
Jacinto et al. (2023): "A trio whole-genome sequencing approach [of an affected 5 month old Wagyu calf and its parents] identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%."