OMIA 001718-9823 : Dwarfism, Schmid metaphyseal chondrodysplasia in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL10A1||collagen, type X, alpha 1||Sus scrofa||1||NC_010443.5 (81773818..81766829)||COL10A1||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Dwarfism, Schmid metaphyseal chondrodysplasia||COL10A1||missense||Sscrofa11.1||1||g.81767089C>T||c.1768G>A||p.(G590R)||2000||11130976||The genomic and CDS position was determined by Stephanie Shields and the effect was confirmed with Ensembl VEP (27/05/2020)|
|2000||Nielsen, V.H., Bendixen, C., Arnbjerg, J., Sørensen, C.M., Jensen, H.E., Shukri, N.M., Thomsen, B. :|
|Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen. Mamm Genome 11:1087-92, 2000. Pubmed reference: 11130976. DOI: 10.1007/s003350010212.|
- Created by Frank Nicholas on 17 Sep 2012