OMIA 002111-9913 : Cataract, recessive, CPAMD8-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CPAMD8||C3 and PZP-like, alpha-2-macroglobulin domain containing 8||Bos taurus||7||NC_037334.1 (6073292..6174094)||CPAMD8||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|
|Red Holstein Friesian||Cataract, recessive, CPAMD8-related||CPAMD8||nonsense (stop-gain)||UMD 3.1, AC_000164.1||7||g.5995966C>T||c.220C>T||p.Gln74*||2017||28683140|
|2017||Hollmann, A.K., Dammann, I., Wemheuer, W.M., Wemheuer, W.E., Chilla, A., Tipold, A., Schulz-Schaeffer, W.J., Beck, J., Schütz, E., Brenig, B. :|
|Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development. PLoS One 12:e0180665, 2017. Pubmed reference: 28683140. DOI: 10.1371/journal.pone.0180665.|
- Created by Frank Nicholas on 07 Jul 2017
- Changed by Frank Nicholas on 07 Jul 2017