OMIA 000725-9913 : Niemann-Pick disease, type C1 in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NPC1||Niemann-Pick disease, type C1||Bos taurus||24||NC_037351.1 (33058694..33105394)||NPC1||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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1244||Angus||Niemann-Pick type C1||NPC1||missense||Naturally occurring variant||ARS-UCD1.2||24||g.33099467C>G||c.2969C>G||p.(P990R)||NM_174758.2:c.2969C>G||rs482882512||rs482882512||2020||32970694|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Woolley, S.A., Tsimnadis, E.R., Lenghaus, C., Healy, P.J., Walker, K., Morton, A., Khatkar, M.S., Elliott, A., Kaya, E., Hoerner, C., Priestman, D.A., Shepherd, D., Platt, F.M., Porebski, B.T., Willet, C.E., O'Rourke, B.A., Tammen, I. :|
|Correction: Molecular basis for a new bovine model of Niemann-Pick type C disease. PLoS One 16:e0257078, 2021. Pubmed reference: 34464426. DOI: 10.1371/journal.pone.0257078.|
|2020||Pallottini, V., Pfrieger, F.W. :|
|Understanding and treating Niemann-Pick type C disease: Models matter. Int J Mol Sci 21:E8979, 2020. Pubmed reference: 33256121. DOI: 10.3390/ijms21238979.|
|Woolley, S.A., Tsimnadis, E.R., Lenghaus, C., Healy, P.J., Walker, K., Morton, A., Khatkar, M.S., Elliott, A., Kaya, E., Hoerner, C., Priestman, D.A., Shepherd, D., Platt, F.M., Porebski, B.T., Willet, C.E., O'Rourke, B.A., Tammen, I. :|
|Molecular basis for a new bovine model of Niemann-Pick type C disease. PLoS One 15:e0238697, 2020. Pubmed reference: 32970694. DOI: 10.1371/journal.pone.0238697.|
- Created by Imke Tammen2 on 25 Sep 2020
- Changed by Imke Tammen2 on 25 Sep 2020
- Changed by Imke Tammen2 on 26 Sep 2020