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|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Angus||Niemann-Pick type C1||NPC1||missense||ARS-UCD1.2||24||g.33099467C>G||c.2969C>G||p.(P990R)||NM_174758.2:c.2969C>G||ss7148491913||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.
|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