LOVD NOTCH3 homepage

General information
Gene name Notch homolog 3
Gene symbol NOTCH3
Chromosome Location 19p13.2-p13.1
Database location chromium.liacs.nl
Curator Elles Boon
PubMed references View all (unique) PubMed references in the NOTCH3 database
Date of creation December 16, 2006
Last update April 15, 2013
Version NOTCH3 130415
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Reference sequence file coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 162
Total number of individuals with variant(s) 233
Total number of variants reported 234
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the NOTCH3 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the NOTCH3 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the NOTCH3 database
Variants with no known pathogenicity Listing of all NOTCH3 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 7883
Entrez Gene 4854
OMIM - Gene 600276
OMIM - Disease CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
HGMD NOTCH3
GeneTests NOTCH3
External link Orphanet