Abortion (embryonic lethality), RNF20-related
Phenotype Details
- Phene ID
- 3911
- Name
- Abortion (embryonic lethality), RNF20-related
- Phene Name
- N/A
- OMIA ID
- 2038
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 344 | Abortion (embryonic lethality), RNF20 | 388268902 | 1 | 8 | NC_037335.1:g.91297797A>T | NM_001081587.1:c.2077A>T | NP_001075056.1:p.(K693*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Molecular Genetics
Charlier et al. (2016): nonsense (stop-gain) p.Lys693∗