LOVD HNF1A homepage

General information
Gene name Hepatocyte Nuclear Factor 1 alpha
Gene symbol HNF1A
Chromosome Location 12q24.2
Database location grenada.lumc.nl
Curator Monique Losekoot and Kevin Colclough
PubMed references View all (unique) PubMed references in the HNF1A database
Date of creation January 17, 2008
Last update June 04, 2018
Version HNF1A180604
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_011731.2
Transcript refseq ID NM_000545.5
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 380
Total number of individuals with variant(s) 2033
Total number of variants reported 6191
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the HNF1A database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the HNF1A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the HNF1A database
Variants with no known pathogenicity Listing of all HNF1A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.LOVD.nl/HNF1A
HGNC 11621
Entrez Gene 6927
OMIM - Gene 142410
GeneCards HNF1A
GeneTests HNF1A
External link #1 Orphanet
External link #2 Diabetes Genes

Copyright & disclaimer
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