APP c.2152A>C ;(p.I718L)

Variant ID: 21-27264093-T-G

NM_000484.3(APP):c.2152A>C;(p.I718L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: APP: I718L
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: APP: Ile718Leu
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04

Variant appearance in text: APP: I718L
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
View BVdb publication page



Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2016

Variant appearance in text: APP: Ile718Leu
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: APP: Ile718Leu
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page