rs63751399

Orientation

plus

Stabilized

plus

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

Make rs63751399(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73171047

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63751399
dbSNP (classic)	rs63751399
ClinGen	rs63751399
ebi	rs63751399
HLI	rs63751399
Exac	rs63751399
Gnomad	rs63751399
Varsome	rs63751399
LitVar	rs63751399
Map	rs63751399
PheGenI	rs63751399
Biobank	rs63751399
1000 genomes	rs63751399
hgdp	rs63751399
ensembl	rs63751399
geneview	rs63751399
scholar	rs63751399
google	rs63751399
pharmgkb	rs63751399
gwascentral	rs63751399
openSNP	rs63751399
23andMe	rs63751399
SNPshot	rs63751399
SNPdbe	rs63751399
MSV3d	rs63751399
GWAS Ctlg	rs63751399

Max Magnitude

7

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 28350801] to be a "definitely" pathogenic mutation.

23andMe name: i5047544

OMIM	104311
Desc
Variant	0023
Related	also

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	RCV000019775.28, RCV000020084.1, RCV000084292.1,

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