Congenital disorder of glycosylation, GALNT2-related
Phenotype Details
- Phene ID
- 4579
- Name
- Congenital disorder of glycosylation, GALNT2-related
- Phene Name
- Small Calf Syndrome
- OMIA ID
- 2375
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1327 | Congenital disorder of glycosylation | 388308760 | 1 | 28 | g.2281801G>A | c.1561-1G>A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
Molecular Genetics
Reynolds et al. (2021): “The top-associated SNP in these analyses presented a highly correlated … c.1561-1G>A splice acceptor mutation in GALNT2 as potentially responsible for these effects … .” The authors “had provisionally mapped the variant as a candidate stature mutation (unpublished), and subsequently as a variant for which homozygotes were depleted … (Charlier et al., 2016).”