APP gene homepage

General information
Gene symbol APP
Gene name amyloid beta (A4) precursor protein
Chromosome 21
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_007376.1
Transcript reference NM_000484.3
Exon/intron information NM_000484.3 exon/intron table
Associated with diseases AD, Cerebral amyloid angiopathy, APP-related
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 124
Unique public DNA variants reported 60
Individuals with public variants 276
Hidden variants 0
Date created April 29, 2010
Date last updated January 08, 2018
Version APP:180108

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_000484.3.
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/APP
External URL Orphanet
Alzheimer Disease & Frontotemporal Dementia Mutation Database
HGNC 620
Entrez Gene 351
PubMed articles APP
OMIM - Gene 104760
OMIM - Diseases AD (Alzheimer disease (AD))
Cerebral amyloid angiopathy, APP-related
HGMD APP
GeneCards APP
GeneTests APP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001472 21 transcript variant 1 NM_000484.3 NP_000475.1 124


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.