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rs63750671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 7 Significantly increased risk for early-onset Alzheimer's disease
Make rs63750671(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891858
GeneAPP
is asnp
is mentioned by
dbSNPrs63750671
dbSNP (old)rs63750671
ClinGenrs63750671
ebirs63750671
HLIrs63750671
Exacrs63750671
Varsomers63750671
Maprs63750671
PheGenIrs63750671
Biobankrs63750671
1000 genomesrs63750671
hgdprs63750671
ensemblrs63750671
gopubmedrs63750671
geneviewrs63750671
scholarrs63750671
googlers63750671
pharmgkbrs63750671
gwascentralrs63750671
openSNPrs63750671
23andMers63750671
23andMe allrs63750671
SNP Nexus

SNPshotrs63750671
SNPdbers63750671
MSV3drs63750671
GWAS Ctlgrs63750671
Max Magnitude7

rs63750671, also known as c.2075C>G, p.Ala692Gly and A692G, represents a rare mutation in the APP gene.

Known as the Flemish mutation, and inherited dominantly, the rare minor allele is considered pathogenic for either early-onset Alzheimer's disease or cerebral amyloid angiopathy. More information can be found in ClinVar, OMIM and AlzForum.

Reported in [PMID 28350801OA-icon.png] as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.

OMIM104760
Desc
Variant0005
Relatedalso


ClinVar
Risk rs63750671(G;G)
Alt rs63750671(G;G)
Reference Rs63750671(C;C)
Significance Pathogenic
Disease Cerebral amyloid angiopathy Alzheimer disease Alzheimer's disease not provided
Variation info
Gene APP
CLNDBN Cerebral amyloid angiopathy, APP-related Alzheimer disease, type 1 Alzheimer's disease not provided
Reversed 1
HGVS NC_000021.8:g.27264170G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019717.27, RCV000019718.27, RCV000020306.2, RCV000084561.1,



[PMID 1303239] Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

[PMID 9754958] Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.

[PMID 9848098] Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion.

[PMID 11004129] Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).

[PMID 11311152OA-icon.png] In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.