{{Rsnum
|rsid=63750306
|Chromosome=14
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PSEN1
|position=73173663
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PSEN1
}}{{omim
|id=104311
|rsnum=63750306
|variant=0001
}}{{ClinVar
|rsid=63750306
|Reversed=0
|FwdREF=A
|FwdALT=C,G,T
|REF=A
|ALT=C,G,T
|RSPOS=73640371
|CHROM=14
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110104
|GENEINFO=PSEN1:5663
|GENE_NAME=PSEN1
|GENE_ID=5663
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000014.8:g.73640371A>C; NC_000014.8:g.73640371A>G; NC_000014.8:g.73640371A>T
|CLNORIGIN=0; 1
|CLNSRCID=
NBK1236; 104311.0001; 104311.0007; ADM_18
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000019751.26; RCV000019757.25; RCV000084310.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM;NOV
|CLNDBN=Alzheimer disease, type 3; not provided
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1161:NBK1236:C1843013:607822:1020
|CLNSRC=GeneReviews; OMIM Allelic Variant; Neurodegenerative Brain Diseases Group
|Disease=Alzheimer disease; not provided
}}{{PMID Auto
|PMID=7596406
|Title=Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
}}

{{PMID Auto
|PMID=7623584
|Title=Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease.
}}

{{PMID Auto
|PMID=9712537
|Title=Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.
}}

{{PMID Auto
|PMID=15622541
|Title=Pick bodies in a family with presenilin-1 Alzheimer's disease.
}}