Arthrogryposis multiplex congenita, CHRNB1-related
Phenotype Details
- Phene ID
- 3882
- Name
- Arthrogryposis multiplex congenita, CHRNB1-related
- Phene Name
- N/A
- OMIA ID
- 2022
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 554 | Arthrogryposis multiplex congenita, CHRNB1-related | 388161797 | 1 | 19 | NC_037346.1:g.27122027del | NM_174516.2:c.55del | NP_776941.1:p.(A19Pfs47*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Red Dane (Cattle) | 72 | 9913 | http://purl.obolibrary.org/obo/VBO_0000353 |
Inheritance
Agerholm et al. (2016) provided pedigree evidence consistent with autosomal recessive inheritance.
Molecular Genetics
Agerholm et al. (2016): "a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein."