{{Rsnum
|rsid=63750231
|Chromosome=14
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PSEN1
|position=73198100
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PSEN1
}}{{omim
|id=104311
|rsnum=63750231
|variant=0009
}}{{ClinVar
|rsid=63750231
|Reversed=0
|FwdREF=A
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=73664808
|CHROM=14
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=PSEN1:5663
|GENE_NAME=PSEN1
|GENE_ID=5663
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000014.8:g.73664808A>C; NC_000014.8:g.73664808A>G
|CLNORIGIN=0; 1
|CLNSRCID=
NBK1236; 104311.0009; ADM_39; 104311.0010
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000019759.26; RCV000019760.25; RCV000019761.26; RCV000084381.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDBN=Alzheimer disease, type 3; Alzheimer disease, familial, with spastic paraparesis and unusual plaques; 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; Alzheimer disease; not provided
}}{{PMID Auto
|PMID=7550356
|Title=The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group.
}}

{{PMID Auto
|PMID=8837617
|Title=The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.
}}

{{PMID Auto
|PMID=9052708
|Title=Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
}}

{{PMID Auto
|PMID=11402113
|Title=Presenilin-1-associated abnormalities in regional cerebral perfusion.
}}

{{PMID Auto
|PMID=12891668
|Title=Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.
}}