Epidermolysis bullosa, junctionalis, LAMC2-related
Phenotype Details
- Phene ID
- 3751
- Name
- Epidermolysis bullosa, junctionalis, LAMC2-related
- Phene Name
- N/A
- OMIA ID
- 1678
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 682 | Epidermolysis bullosa, junctionalis, LAMC2 | 388267855 | 1 | 16 | N/A | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Hereford (Cattle) | 17 | 9913 | http://purl.obolibrary.org/obo/VBO_0000232 |
Molecular Genetics
"2.4 kb deletion encompassing the first exon of the LAMC2 gene" (Murgiano et al., 2015)