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, IDDM20, MODY3, NIDDM, RCC, hepatic adenoma, somatic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Monique Losekoot and Kevin Colclough
Total number of public variants reported 6325
Unique public DNA variants reported 442
Individuals with public variants 2054
Hidden variants 35
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 May 09, 2022
Version HNF1A:220509

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
External URL Diabetes genes
HGNC 11621
Entrez Gene 6927
PubMed articles HNF1A
OMIM - Gene 142410
OMIM - Diseases IDDM (diabetes mellitus, insulin-dependent (IDDM))
IDDM20 (diabetes mellitus, insulin-dependent, type 20 (IDDM-20))
MODY3 (diabetes of the young, maturity-onset, type 3 (MODY-3))
NIDDM (diabetes mellitus, type II (NIDDM))
RCC (carcinoma, renal cell, nonpapillary (RCC))
hepatic adenoma, somatic
GeneCards HNF1A
GeneTests HNF1A
Orphanet HNF1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00009496 12 HNF1 homeobox A NM_000545.5 NP_000536.5 6325

Copyright & disclaimer
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