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rs63750306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 7 Alzheimer's disease
(A;G) 7 Alzheimer's disease
(A;T) 7 Alzheimer's disease
Make rs63750306(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73173663
GenePSEN1
is asnp
is mentioned by
dbSNPrs63750306
ClinGenrs63750306
ebirs63750306
HLIrs63750306
Exacrs63750306
Varsomers63750306
Maprs63750306
PheGenIrs63750306
hapmaprs63750306
1000 genomesrs63750306
hgdprs63750306
ensemblrs63750306
gopubmedrs63750306
geneviewrs63750306
scholarrs63750306
googlers63750306
pharmgkbrs63750306
gwascentralrs63750306
openSNPrs63750306
23andMers63750306
23andMe allrs63750306
SNP Nexus

SNPshotrs63750306
SNPdbers63750306
MSV3drs63750306
GWAS Ctlgrs63750306
Max Magnitude7

Located in the PSEN1 gene, rs63750306 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.436A>C is also known as p.Met146Leu or M146L; the c.436A>G mutation is also known as p.Met146Val or M146V; and the c.436A>T mutation is also known as p.Met146Leu or M146L.

All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease and are listed in either ClinVar, OMIM and/or AlzForum.

23andMe calls the A>T variant: i5047522

The A>C variant is reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

OMIM104311
Desc
Variant0001
Relatedalso
ClinVar
Risk rs63750306(C;C) rs63750306(G;G) rs63750306(T;T)
Alt rs63750306(C;C) rs63750306(G;G) rs63750306(T;T)
Reference Rs63750306(A;A)
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.73640371A>C; NC_000014.8:g.73640371A>G; NC_000014.8:g.73640371A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019751.29, RCV000019757.27, RCV000084310.1,


[PMID 7596406] Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.


[PMID 7623584] Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease.


[PMID 9712537] Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.


[PMID 15622541] Pick bodies in a family with presenilin-1 Alzheimer's disease.