OMIA 002065-9685 : Niemann-Pick disease, type C2 in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NPC2||Niemann-Pick disease, type C2||Felis catus||B3||NC_018728.3 (121873193..121864475)||NPC2||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|
|Niemann-Pick disease, type C2||NPC2||splicing||Felis_catus_6.2||B3||g.120939103G>A||c.82+5G>A||p.(G28_S29ins35)||2014||25396745||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2014||Zampieri, S., Bianchi, E., Cantile, C., Saleri, R., Bembi, B., Dardis, A. :|
|Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One 9:e112503, 2014. Pubmed reference: 25396745. DOI: 10.1371/journal.pone.0112503.|
- Created by Frank Nicholas on 29 Oct 2016