PSEN1 gene homepage

General information
Gene symbol PSEN1
Gene name presenilin 1
Chromosome 14
Chromosomal band q24.3
Imprinted Not imprinted
Genomic reference NG_007386.2
Transcript reference NM_000021.3
Exon/intron information NM_000021.3 exon/intron table
Associated with diseases ACNINV-3, AD-3, CMD-1U, FTD, Picks
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 470
Unique public DNA variants reported 222
Individuals with public variants 1233
Hidden variants 0
Download all this gene's data Download all data
Date created April 29, 2010
Date last updated April 09, 2019
Version PSEN1:190409

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000021.3.
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
Homepage URL http://www.LOVD.nl/PSEN1
External URL Orphanet
HGNC 9508
Entrez Gene 5663
PubMed articles PSEN1
OMIM - Gene 104311
OMIM - Diseases ACNINV-3 (acne inversa, familial, type 3 (ACNINV-3))
AD-3 (Alzheimer disease, type 3 (AD-3))
CMD-1U (cardiomyopathy, dilated, type 1U CMD-1U))
FTD (dementia, frontotemporal (FTD))
Picks (Pick's disease of brain)
HGMD PSEN1
GeneCards PSEN1
GeneTests PSEN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001776 14 transcript variant 1 NM_000021.3 NP_000012.1 470


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