APOE c.764C>T ;(p.A255V)

Variant ID: 19-45412317-C-T

NM_000041.2(APOE):c.764C>T;(p.A255V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: APOE: 764C>T; Ala255Val
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 22
View BVdb publication page



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: 764C>T
PubMed Link: 22248099
Variant Present in the following documents:
  • Main text
  • 1750-1326-7-3.pdf
View BVdb publication page