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rs63751399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 7 Frontotemporal dementia (reported)
(T;T) 0 common in clinvar


Make rs63751399(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73171047
GenePSEN1
is asnp
is mentioned by
dbSNPrs63751399
ClinGenrs63751399
ebirs63751399
HLIrs63751399
Exacrs63751399
Varsomers63751399
Maprs63751399
PheGenIrs63751399
hapmaprs63751399
1000 genomesrs63751399
hgdprs63751399
ensemblrs63751399
gopubmedrs63751399
geneviewrs63751399
scholarrs63751399
googlers63751399
pharmgkbrs63751399
gwascentralrs63751399
openSNPrs63751399
23andMers63751399
23andMe allrs63751399
SNP Nexus

SNPshotrs63751399
SNPdbers63751399
MSV3drs63751399
GWAS Ctlgrs63751399
Max Magnitude7

rs63751399, also known as c.338T>C, p.Leu113Pro or L113P, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63751399(C) allele is considered pathogenic for frontotemporal dementia.

Reported in [PMID 28350801OA-icon.png] to be a "definitely" pathogenic mutation.

23andMe name: i5047544

OMIM104311
Desc
Variant0023
Relatedalso
ClinVar
Risk rs63751399(C;C)
Alt rs63751399(C;C)
Reference Rs63751399(T;T)
Significance Pathogenic
Disease Frontotemporal dementia Alzheimer disease not provided
Variation info
Gene PSEN1
CLNDBN Frontotemporal dementia Alzheimer disease, type 3 not provided
Reversed 0
HGVS NC_000014.8:g.73637755T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019775.27, RCV000020084.1, RCV000084292.1,


[PMID 11094121] Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.