rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
|
30279455 |
2018 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.
|
27260402 |
2016 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations.
|
26803359 |
2016 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
|
25948718 |
2015 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants.
|
26402770 |
2015 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy.
|
23296339 |
2013 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
|
23571587 |
2013 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
|
23224319 |
2013 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
APOE4-specific changes in Aβ accumulation in a new transgenic mouse model of Alzheimer disease.
|
23060451 |
2012 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Association between apolipoprotein E gene polymorphism and the risk of vascular dementia: a meta-analysis.
|
22381401 |
2012 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect.
|
19605830 |
2009 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.
|
19363265 |
2009 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Familial Alzheimer disease associated with A713T mutation in APP.
|
15488330 |
2004 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
|
15365148 |
2004 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Dominant negative effects of apolipoprotein E4 revealed in transgenic models of neurodegenerative disease.
|
10799751 |
2000 |
rs429358
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.
|
9343467 |
1997 |
rs63750066
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
More missense in amyloid gene.
|
1303275 |
1992 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease.
|
31623876 |
2019 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
|
27838006 |
2017 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A guanine-to-adenine transition in exon 17 of the APP gene resulting in a valine-to-isoleucine substitution at codon 717 was detected in 14 subjects including 6 patients with EOAD.
|
25138979 |
2014 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease.
|
20523046 |
2010 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In patients with onset < or =70 years (n = 204), we identified one patient carrying the London APP V717I mutation while no patients carried an APP locus duplication, indicating that APP promoter mutations (n = 2) were more frequently associated with increased risk for early-onset Alzheimer's disease.
|
16931535 |
2006 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A 30-year-old AD-asymptomatic woman with a V717L mutation that was identified by predictive testing of a family with a history of early-onset AD.
|
11866650 |
2002 |
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |