LOVD HFE homepage

General information
Gene name hemochromatosis
Gene symbol HFE
Chromosome Location 6p21.3
Database location grenada.lumc.nl
Curator Catherine Mura
Database reference for citations PMID3460331
PubMed references View all (unique) PubMed references in the HFE database
Date of creation April 29, 2010
Last update January 05, 2013
Version HFE130105
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Genomic refseq ID NG_008720.1
Transcript refseq ID NM_000410.3
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the HFE database, sorted by type of variant (with graphical displays and statistics)
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

Links to other resources
HGNC 4886
Entrez Gene 3077
OMIM - Gene 235200
OMIM - Disease #1 ALZHEIMER DISEASE
OMIM - Disease #2 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7
OMIM - Disease #3 TRANSFERRIN
OMIM - Disease #4 PORPHYRIA CUTANEA TARDA
OMIM - Disease #5 HEMOCHROMATOSIS
OMIM - Disease #6 PORPHYRIA VARIEGATA
UniProtKB (SwissProt/TrEMBL) Q96KU8
External link Orphanet