PSEN1 c.493T>G ;(p.W165G)

Variant ID: 14-73653573-T-G

NM_000021.3(PSEN1):c.493T>G;(p.W165G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: PSEN1: Trp165Gly
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology
Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-08-07

Variant appearance in text: PSEN1: W165G
PubMed Link: 31391004
Variant Present in the following documents:
  • Main text
  • 12883_2019_Article_1419.pdf
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Publication Date: 2019-07-12

Variant appearance in text: PSEN1: W165G
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
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: PSEN1: Trp165Gly
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: PS1: W165G
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page