OMIA 002198-9615 : Progressive retinal atrophy, NECAP1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NECAP1||NECAP endocytosis associated 1||Canis lupus familiaris||27||NC_006609.3 (37460545..37472512)||NECAP1||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|
|Giant Schnauzer||Progressive retinal atrophy, NECAP1-related||NECAP1||missense||CanFam3.1||27||g.37,468,611G>A||c.544G>A||p.(Gly182Arg)||2019||31117272|
|2019||Hitti, R.J., Oliver, J.A.C., Schofield, E.C., Bauer, A., Kaukonen, M., Forman, O.P., Leeb, T., Lohi, H., Burmeister, L.M., Sargan, D., Mellersh, C.S. :|
|Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes <i>NECAP1</i> as a Novel Candidate Gene for Retinal Degeneration. Genes (Basel) 10:, 2019. Pubmed reference: 31117272. DOI: 10.3390/genes10050385.|
- Created by Frank Nicholas on 25 May 2019