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APP c.1450C>T ;(p.P484S)
Variant ID: 21-27347391-G-A
NM_000484.3(
APP
):c.1450C>T;(p.P484S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.
Cns Neuroscience & Therapeutics
Xiao, Xuewen X; Liu, Hui H; Zhou, Lu L; Liu, Xixi X; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Hao, Xiaoli X; Liu, Yingzi Y; Zhang, Weiwei W; Zhou, Yafang Y; Wang, Junling J; Li, Jinchen J; Jiao, Bin B; Shen, Lu L; Liao, Xinxin X
Publication Date: 2022-10-10
Variant appearance in text: APP: P484S
PubMed Link:
36217304
Variant Present in the following documents:
Main text
CNS-29-122.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: 1450C>T; Pro484Ser
PubMed Link:
31557888
Variant Present in the following documents:
Main text
ijms-20-04757.pdf
View BVdb publication page