APP c.2021A>G ;(p.E674G)

Variant ID: 21-27269928-T-C

NM_000484.3(APP):c.2021A>G;(p.E674G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.

Journal Of Alzheimer'S Disease : Jad
Louwersheimer, Eva E; Cohn-Hokke, Petra E PE; Pijnenburg, Yolande A L YA; Weiss, Marjan M MM; Sistermans, Erik A EA; Rozemuller, Annemieke J AJ; Hulsman, Marc M; van Swieten, John C JC; van Duijn, Cock M CM; Barkhof, Frederik F; Koene, Teddy T; Scheltens, Philip P; Van der Flier, Wiesje M WM; Holstege, Henne H
Publication Date: 2017

Variant appearance in text: APP: 2021A>G
PubMed Link: 27911290
Variant Present in the following documents:
  • Main text
  • jad-56-jad160091.pdf
View BVdb publication page