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 (1)	Kevin Colclough
Total number of public variants reported	6367
Unique public DNA variants reported	463
Individuals with public variants	2055
Hidden variants	28
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. We gratefully acknowledge the efforts of *Monique Losekoot* (Leiden, Nederland), acting as curator for this gene until 2017.
Date created	January 17, 2008
Date last updated	April 09, 2024
Version	HNF1A:240409

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)) 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
HGMD	HNF1A
GeneCards	HNF1A
GeneTests	HNF1A
Orphanet	HNF1A

Active transcripts

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00009496	12	HNF1 homeobox A	NM_000545.5	NP_000536.5	6367

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2008-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.

Global Variome shared LOVD

HNF1A (HNF1 homeobox A)