View H19 gene homepage

General information
Gene symbol H19
Gene name H19, imprinted maternally expressed transcript (non-protein coding)
Chromosome 11
Chromosomal band p15.5
Imprinted Imprinted, paternal
Genomic reference NG_016165.1
Transcript reference NR_002196.1
Associated with diseases BWS, SRS, WT-1, WT-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 5
Unique public DNA variants reported 5
Individuals with public variants 2
Hidden variants 0
Date created June 25, 2012
Date last updated September 14, 2015
Version H19:150914

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/H19
HGNC 4713
Entrez Gene 283120
PubMed articles H19
OMIM - Gene 103280
OMIM - Diseases BWS (Beckwith-Wiedemann syndrome (BWS))
SRS (Silver-Russell syndrome (SRS, Russell-Silver syndrome))
WT-1 (Wilms tumor, type 1, somatic (WT-1, nephroblastoma))
WT-2 (Wilms tumor, type 2 (WT-2))
HGMD H19
GeneCards H19
GeneTests H19


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000237 11 H19, imprinted maternally expressed transcript (non-protein coding) NR_002196.1 - 5


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