The 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) Global Variome, with Curator vacancy
Total number of public variants reported 469
Unique public DNA variants reported 241
Individuals with public variants 491
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 November 02, 2020
Version HNF1B:201102

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
HGNC 11630
Entrez Gene 6928
PubMed articles HNF1B
OMIM - Gene 189907
OMIM - Diseases NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
RCC (carcinoma, renal cell, nonpapillary (RCC))
GeneCards HNF1B
GeneTests HNF1B

Active transcripts




NCBI ID     

NCBI Protein ID     

00009498 17 transcript variant 1 NM_000458.2 NP_000449.1 469

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.