The PSEN1 gene homepage

General information
Gene symbol PSEN1
Gene name presenilin 1
Chromosome 14
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_007386.2
Transcript reference NM_000021.3
Associated with diseases AD, DLB, FTLD
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 378
Unique public DNA variants reported 194
Individuals with public variants 377
Hidden variants -
Date created November 27, 2014
Date last updated November 17, 2017
Version PSEN1:171117

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL LRG_224
HGNC 9508
Entrez Gene 5663
PubMed articles PSEN1
OMIM - Gene 104311
OMIM - Diseases AD (Alzheimer Disease)
DLB (Lewy Body Dementia)
FTLD (Frontotemporal Lobar Degeneration)
HGMD PSEN1
GeneCards PSEN1
GeneTests PSEN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000009 14 transcript variant 1 NM_000021.3 NP_000012.1 378


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