Anhidrotic ectodermal dysplasia, EDAR-related
Phenotype Details
- Phene ID
- 4065
- Name
- Anhidrotic ectodermal dysplasia, EDAR-related
- Phene Name
- N/A
- OMIA ID
- 2128
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 843 | Anhidrotic ectodermal dysplasia, EDAR-related | 388307634 | 1 | 11 | g.44599876_44599877insC | N/A | p.(P161Rfs*97) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Charolais (Cattle) | 19 | 9913 | http://purl.obolibrary.org/obo/VBO_0000177 |
Molecular Genetics
Bourneuf et al. (2017): a de novo likely causal variant in Charolais is single-base insertion in EDAR, resulting in a frameshift variant g.44462236_44462237insC; p.P161RfsX97