Muscle weakness, CACNA1S-related
Phenotype Details
- Phene ID
- 5815
- Name
- Muscle weakness, CACNA1S-related
- Phene Name
- Recumbency
- OMIA ID
- 2819
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2024
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1660 | Muscle weakness | 398298865 | 1 | 16 | NC_037343.1:g.79613592C>T | XM_024976574.1:c.3853G>A | XP_024832342.1:p.G1285S |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Inheritance
likely to be autosomal recessive with incomplete penetrance
Molecular Genetics
Al-Khudhair et al. (2024) report a variant in the CACNA1S gene (rs3423414874) as likely causal variant for this condition.