Hemifacial microsomia, LAMB1-related
Phenotype Details
- Phene ID
- 4810
- Name
- Hemifacial microsomia, LAMB1-related
- Phene Name
- N/A
- OMIA ID
- 2479
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1387 | Hemifacial microsomia | 388271016 | 1 | 4 | NC_037331.1:g.49019693G>A | NM_001206519.1:c.2002C>T | NP_001193448.1:p.(R668C) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Romagnola (Cattle) | 202 | 9913 | http://purl.obolibrary.org/obo/VBO_0000360 |
Molecular Genetics
Jacinto et al. (2022): "A trio whole-genome sequencing approach was carried out and identified a private homozygous missense variant in LAMB1 affecting a conserved residue (p.Arg668Cys)."