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rs63750083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 8 Early-onset Alzheimer's; see discussion
(C;C) 0 common in clinvar


Make rs63750083(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position73219177
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750083
dbSNP (old)rs63750083
ClinGenrs63750083
ebirs63750083
HLIrs63750083
Exacrs63750083
Varsomers63750083
Maprs63750083
PheGenIrs63750083
Biobankrs63750083
1000 genomesrs63750083
hgdprs63750083
ensemblrs63750083
gopubmedrs63750083
geneviewrs63750083
scholarrs63750083
googlers63750083
pharmgkbrs63750083
gwascentralrs63750083
openSNPrs63750083
23andMers63750083
23andMe allrs63750083
SNP Nexus

SNPshotrs63750083
SNPdbers63750083
MSV3drs63750083
GWAS Ctlgrs63750083
Max Magnitude8

rs63750083, also known as c.1292C>A, p.Ala431Glu and A431E, represents a rare mutation in the PSEN1 gene on chromosome 14. [There is an alternate allele, c.1292C>T, however the medical consequence if any is not currently reported.]

As described initially in 2006 in families from the Jalisco region of Mexiso, the rs63750083(A) variant is considered a founder mutation for early-onset Alzheimer's disease. It is not clear if it is fully penetrant.

A 2016 NPR article about families with the Jalisco mutation can be found here.

23andMe calls the c.1292C>A SNP by the name i5047580; as far as is known, they do not test the C>T allele pair.

OMIM104311
Desc
Variant0033
Relatedalso
ClinVar
Risk rs63750083(A;A) rs63750083(T;T)
Alt rs63750083(A;A) rs63750083(T;T)
Reference Rs63750083(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.73685885C>A; NC_000014.8:g.73685885C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019785.29, RCV000084412.1,


[PMID 16628450] Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.


[PMID 16897084OA-icon.png] The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.