JAG1 gene homepage

General information
Gene symbol JAG1
Gene name jagged 1
Chromosome 20
Chromosomal band p12.1-p11.23
Imprinted Unknown
Genomic reference NG_007496.1
Transcript reference NM_000214.2
Exon/intron information NM_000214.2 exon/intron table
Associated with diseases ID, TOF, Alagille syndrome, deafness, congenital heart defects, and posterior embryotoxon
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 118
Unique public DNA variants reported 106
Individuals with public variants 4
Hidden variants 0
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 20, 2010
Date last updated March 26, 2019
Version JAG1:190326

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_000214.2.
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/JAG1
HGNC 6188
Entrez Gene 182
PubMed articles JAG1
OMIM - Gene 601920
OMIM - Diseases TOF (tetralogy of Fallot (TOF))
Alagille syndrome
HGMD JAG1
GeneCards JAG1
GeneTests JAG1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000084 20 jagged 1 NM_000214.2 NP_000205.1 118


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