The 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 106
Unique public DNA variants reported 79
Individuals with public variants 1
Hidden variants 2
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 September 17, 2021
Version FTH1:210917

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
HGNC 3976
Entrez Gene 2495
PubMed articles FTH1
OMIM - Gene 134770
OMIM - Diseases HFE-5 (hemochromatosis, type 5 (HFE-5))
GeneCards FTH1
GeneTests FTH1
Orphanet FTH1

Active transcripts




NCBI ID     

NCBI Protein ID     

00023890 11 ferritin, heavy polypeptide 1 NM_002032.2 NP_002023.2 106

Copyright & disclaimer
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