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rs63749824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 associated with Alzheimer's disease (either early- or late-onset)
Make rs63749824(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position73170945
GenePSEN1
is asnp
is mentioned by
dbSNPrs63749824
ClinGenrs63749824
ebirs63749824
HLIrs63749824
Exacrs63749824
Varsomers63749824
Maprs63749824
PheGenIrs63749824
hapmaprs63749824
1000 genomesrs63749824
hgdprs63749824
ensemblrs63749824
gopubmedrs63749824
geneviewrs63749824
scholarrs63749824
googlers63749824
pharmgkbrs63749824
gwascentralrs63749824
openSNPrs63749824
23andMers63749824
23andMe allrs63749824
SNP Nexus

SNPshotrs63749824
SNPdbers63749824
MSV3drs63749824
GWAS Ctlgrs63749824
Max Magnitude7

rs63749824, also known as c.236C>T, A79V or Ala79Val, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749824(T) allele is considered pathogenic for late-onset Alzheimer's disease. [PMID 17366635]

Reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation. However, they note that this variant seems to be associated with a later onset compared to other PSEN1 variants, and, it has been found in several families with late-onset AD. This suggests that this mutation spans a large range of age of onsets (53–78 y), which the authors state "could lead to underestimation of its frequency and is of importance for genetic counseling".

OMIM104311
Desc
Variant0035
Relatedalso


ClinVar
Risk rs63749824(T;T)
Alt rs63749824(T;T)
Reference Rs63749824(C;C)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73637653C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019787.28, RCV000084281.1,



[PMID 17366635] Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.


[PMID 17615170OA-icon.png] Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease.