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rs281865161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
(GA;TC) 8 Alzheimer's disease, familial
Make rs281865161(TC;TC)
ReferenceGRCh38 38.1/141
Chromosome21
Position25897626
GeneAPP
is asnp
is mentioned by
dbSNPrs281865161
dbSNP (old)rs281865161
ClinGenrs281865161
ebirs281865161
HLIrs281865161
Exacrs281865161
Gnomadrs281865161
Varsomers281865161
Maprs281865161
PheGenIrs281865161
Biobankrs281865161
1000 genomesrs281865161
hgdprs281865161
ensemblrs281865161
gopubmedrs281865161
geneviewrs281865161
scholarrs281865161
googlers281865161
pharmgkbrs281865161
gwascentralrs281865161
openSNPrs281865161
23andMers281865161
23andMe allrs281865161
SNP Nexus

SNPshotrs281865161
SNPdbers281865161
MSV3drs281865161
GWAS Ctlgrs281865161
Max Magnitude8

rs281865161, also known as c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu), or also as K670N/M671L, represents a double mutation in the APP gene. It is also known as the 'Swedish mutation'. Inherited dominantly, the (rare) minor allele is considered pathogenic for Alzheimer's disease in both ClinVar and AlzForum.

This is reported to lead to a relatively early-onset form of Alzheimer's, with a mean age of onset of 55 years, according to an older (1992) report cited in OMIM.


ClinVar
Risk rs281865161(TC;TC)
Alt rs281865161(TC;TC)
Reference Rs281865161(GA;GA)
Significance Pathogenic
Disease Alzheimer disease Alzheimer's disease not provided
Variation info
Gene APP
CLNDBN Alzheimer disease, type 1 Alzheimer's disease not provided
Reversed 1
HGVS NC_000021.8:g.27269938_27269939delTCinsGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019720.27, RCV000034924.1, RCV000084589.1,


[PMID 88] The oxygen affinity of haemoglobin Tak, a variant with an elongated beta chain.


[PMID 1302033] A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.


[PMID 1465129] Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.


[PMID 7489411] The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway.


[PMID 8012386] Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.


[PMID 9371838OA-icon.png] Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology.


[PMID 9796810] Neuron loss in APP transgenic mice.