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PSEN1 c.745A>C ;(p.I249L)
Variant ID: 14-73659548-A-C
NM_000021.3(
PSEN1
):c.745A>C;(p.I249L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08
Variant appearance in text: PSEN1: Ile249Leu
PubMed Link:
37176125
Variant Present in the following documents:
ijms-24-08417.pdf
View BVdb publication page
Blood neuro-exosomal synaptic proteins predict Alzheimer's disease at the asymptomatic stage.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Jia, Longfei L; Zhu, Min M; Kong, Chaojun C; Pang, Yana Y; Zhang, Heng H; Qiu, Qiongqiong Q; Wei, Cuibai C; Tang, Yi Y; Wang, Qi Q; Li, Ying Y; Li, Tingting T; Li, Fangyu F; Wang, Qigeng Q; Li, Yan Y; Wei, Yiping Y; Jia, Jianping J
Publication Date: 2021-01
Variant appearance in text: PSEN1: I249L
PubMed Link:
32776690
Variant Present in the following documents:
ALZ-17-49.pdf
View BVdb publication page
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: PSEN1: 745A>C
PubMed Link:
32767553
Variant Present in the following documents:
Main text
View BVdb publication page
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Plos Genetics
Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD
Publication Date: 2014-10
Variant appearance in text: PSEN1: I249L
PubMed Link:
25299611
Variant Present in the following documents:
Main text
pgen.1004704.pdf
pgen.1004704.s002.xlsx, sheet 1
View BVdb publication page