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APP c.2159T>C ;(p.L720S)
Variant ID: 21-27264086-A-G
NM_000484.3(
APP
):c.2159T>C;(p.L720S)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10
Variant appearance in text: APP: 2159T>C; Leu720Ser
PubMed Link:
32767553
Variant Present in the following documents:
Main text
MGG3-8-e1443.pdf
View BVdb publication page
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: L720S
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: Leu720Ser
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: L720S
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: Leu720Ser
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: Leu720Ser
PubMed Link:
24729694
Variant Present in the following documents:
Main text
cia-9-535.pdf
View BVdb publication page