The HNF1A gene homepage

General information
Gene symbol HNF1A
Gene name HNF1 homeobox A
Chromosome 12
Chromosomal band q24.31
Imprinted Unknown
Genomic reference NG_011731.2
Transcript reference NM_000545.5
Exon/intron information NM_000545.5 exon/intron table
Associated with diseases IDDM, IDDM-20, MODY-3, NIDDM, RCC, Hepatic adenomas, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Monique Losekoot and Kevin Colclough
Total number of public variants reported 6229
Unique public DNA variants reported 391
Individuals with public variants 2046
Hidden variants 75
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 January 17, 2008
Date last updated February 08, 2021
Version HNF1A:210208

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_000545.5.
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/HNF1A
External URL Diabetes genes
HGNC 11621
Entrez Gene 6927
PubMed articles HNF1A
OMIM - Gene 142410
OMIM - Diseases IDDM (diabetes mellitus, insulin-dependent (IDDM))
IDDM-20 (diabetes mellitus, insulin-dependent, type 20 (IDDM-20))
MODY-3 (diabetes of the young, maturity-onset, type 3 (MODY-3))
NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
RCC (carcinoma, renal cell, nonpapillary (RCC))
Hepatic adenomas, familial
HGMD HNF1A
GeneCards HNF1A
GeneTests HNF1A
Orphanet HNF1A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009496 12 HNF1 homeobox A NM_000545.5 NP_000536.5 6229


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