NOTCH1 gene homepage

General information
Gene symbol NOTCH1
Gene name notch 1
Chromosome 9
Chromosomal band q34.3
Imprinted Unknown
Genomic reference NG_007458.1
Transcript reference NM_017617.3
Exon/intron information NM_017617.3 exon/intron table
Associated with diseases AOS-5, AOVD-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 539
Unique public DNA variants reported 366
Individuals with public variants 2
Hidden variants 17
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 19, 2016
Version NOTCH1:160519

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_017617.3.
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/NOTCH1
HGNC 7881
Entrez Gene 4851
PubMed articles NOTCH1
OMIM - Gene 190198
OMIM - Diseases AOS-5 (Adams-Oliver syndrome, type 5 (AOS-5))
AOVD-1 (aortic valve disease, type 1 (AOVD-1))
HGMD NOTCH1
GeneCards NOTCH1
GeneTests NOTCH1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014698 9 notch 1 NM_017617.3 NP_060087.3 539


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