Charcot Marie Tooth disease, FGD4-related
Phenotype Details
- Phene ID
- 4578
- Name
- Charcot Marie Tooth disease, FGD4-related
- Phene Name
- N/A
- OMIA ID
- 2374
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1326 | Charcot Marie Tooth disease | 388265224 | 1 | 5 | NC_037332.1:g.77262490C>T | XM_024992559.1:c.1671+1G>A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
Molecular Genetics
Reynolds et al. (2021) report a FGD4 c.1671+1G>A splice donor mutation in New Zealand dairy cattle as likely causal variant for the the bodyweight QTL and Charcot Marie Tooth disease.