FTH1 gene homepage

General information
Gene symbol FTH1
Gene name ferritin, heavy polypeptide 1
Chromosome 11
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_008346.1
Transcript reference NM_002032.2
Exon/intron information NM_002032.2 exon/intron table
Associated with diseases HFE-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Ann Walker, Chana Unger and Sarah Leigh
Total number of public variants reported 3
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Download all this gene's data Download all data
Notes databases from the FH UCL BHF
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated November 25, 2016
Version FTH1:161125

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_002032.2.
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/FTH1
External URL Orphanet
HGNC 3976
Entrez Gene 2495
PubMed articles FTH1
OMIM - Gene 134770
OMIM - Diseases HFE-5 (hemochromatosis, type 5 (HFE-5))
HGMD FTH1
GeneCards FTH1
GeneTests FTH1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023890 11 ferritin, heavy polypeptide 1 NM_002032.2 NP_002023.2 3


Copyright & disclaimer
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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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.