View NOTCH3 gene homepage

General information
Gene symbol NOTCH3
Gene name notch 3
Chromosome 19
Chromosomal band p13.2-p13.1
Imprinted Not imprinted
Genomic reference NG_009819.1
Transcript reference NM_000435.2
Exon/intron information NM_000435.2
Associated with diseases CADASIL, IMF-2, LMNS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Saskia Lesnik Oberstein and Julie Rutten
Total number of public variants reported 171
Unique public DNA variants reported 163
Individuals with public variants 235
Hidden variants 38
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
We gratefully acknowledge the efforts of Elles Boon (LUMC) who curated this database from 2008 to 2015.
Date created December 16, 2006
Date last updated October 27, 2015
Version NOTCH3:151027

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
Homepage URL http://www.LOVD.nl/NOTCH3
External URL Orphanet
HGNC 7883
Entrez Gene 4854
PubMed articles NOTCH3
OMIM - Gene 600276
OMIM - Diseases CADASIL (arteriopathy, cerebral, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL))
IMF-2 (myofibromatosis, infantile, type 2 (IMF-2))
LMNS (meningocele, lateral syndrome (LMNS))
HGMD NOTCH3
GeneCards NOTCH3
GeneTests NOTCH3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014701 19 notch 3 NM_000435.2 NP_000426.2 171


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 © 2006-2016. 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.