APOE c.48C>A ;(p.C16*)

Variant ID: 19-45411021-C-A

NM_000041.2(APOE):c.48C>A;(p.C16*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.

Molecular Neurodegeneration
Bettens, Karolien K; Brouwers, Nathalie N; Engelborghs, Sebastiaan S; Lambert, Jean-Charles JC; Rogaeva, Ekaterina E; Vandenberghe, Rik R; Le Bastard, Nathalie N; Pasquier, Florence F; Vermeulen, Steven S; Van Dongen, Jasper J; Mattheijssens, Maria M; Peeters, Karin K; Mayeux, Richard R; St George-Hyslop, Peter P; Amouyel, Philippe P; De Deyn, Peter P PP; Sleegers, Kristel K; Van Broeckhoven, Christine C
Publication Date: 2012-01-16

Variant appearance in text: APOE: 48C>A
PubMed Link: 22248099
Variant Present in the following documents:
  • Main text
  • 1750-1326-7-3.pdf
View BVdb publication page



Genetic variability in CLU and its association with Alzheimer's disease.

Plos One
Guerreiro, Rita J RJ; Beck, John J; Gibbs, J Raphael JR; Santana, Isabel I; Rossor, Martin N MN; Schott, Jonathan M JM; Nalls, Michael A MA; Ribeiro, Helena H; Santiago, Beatriz B; Fox, Nick C NC; Oliveira, Catarina C; Collinge, John J; Mead, Simon S; Singleton, Andrew A; Hardy, John J
Publication Date: 2010-03-03

Variant appearance in text: APOE: 48C>A
PubMed Link: 20209083
Variant Present in the following documents:
  • Main text
View BVdb publication page