The HNF1A gene homepage

General information
Gene symbol HNF1A
Gene name HNF1 homeobox A
Chromosome 12
Chromosomal band q24.31
Imprinted Unknown
Genomic reference LRG_522
Transcript reference NM_000545.5, XM_005253931.1
Associated with diseases IDDM, IDDM-20, MODY-3, NIDDM, RCC, Hepatic adenomas, familial
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 281
Unique public DNA variants reported 25
Individuals with public variants 35
Hidden variants 77
Date created November 30, -0001
Date last updated September 28, 2016
Version HNF1A:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012021 12 HNF1 homeobox A NM_000545.5 NP_000536.5 281
00035667 12 transcript variant X1 XM_005253931.1 XP_005253988.1 -