HNF1B gene homepage

General information
Gene symbol HNF1B
Gene name HNF1 homeobox B
Chromosome 17
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_013019.2
Transcript reference NM_000458.2
Exon/intron information NM_000458.2 exon/intron table
Associated with diseases NIDDM, RCAD, RCC
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 452
Unique public DNA variants reported 239
Individuals with public variants 428
Hidden variants 24
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 July 12, 2019
Version HNF1B:190712

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_000458.2.
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 https://www.LOVD.nl/HNF1B
HGNC 11630
Entrez Gene 6928
PubMed articles HNF1B
OMIM - Gene 189907
OMIM - Diseases NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
RCAD (MODY-5)
RCC (carcinoma, renal cell, nonpapillary (RCC))
HGMD HNF1B
GeneCards HNF1B
GeneTests HNF1B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009498 17 transcript variant 1 NM_000458.2 NP_000449.1 452


Copyright & disclaimer
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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.