HFE homeostatic iron regulator

Information
Symbol
HFE
Type
protein-coding
Description
homeostatic iron regulator
Entrez Gene ID
3077
Genome
hg19
Position
chr6:26,087,657-26,098,571
Genome
hg38
Position
chr6:26,087,429-26,098,343
MIM
613609 OMIM
HGNC
HGNC:4886 HGNC
Ensembl
ENSG00000010704 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 58
Likely pathogenic 2 30
Benign 0 22
Likely benign 0 254
Conflicting classifications of pathogenicity 0 22
low penetrance; other 0 2
low penetrance; other; risk factor 0 2
not provided 6 2
Uncertain significance 0 180
Ranking
ClinVar
0
0
62
456
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM HFE1
SYNONYM HH
SYNONYM HLA-H
SYNONYM MVCD7
SYNONYM TFQTL2
MIM 613609 OMIM
HGNC HGNC:4886 HGNC
Ensembl ENSG00000010704 Ensembl
AllianceGenome HGNC:4886
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000470149.5 hg38 chr6 26,087,392 26,094,262 6,871
ENST00000461397.6 hg38 chr6 26,087,319 26,094,230 6,912
ENST00000336625.12 hg38 chr6 26,087,397 26,094,257 6,861
ENST00000357618.10 hg38 chr6 26,087,429 26,098,343 10,915
ENST00000353147.9 hg38 chr6 26,087,281 26,094,368 7,088
ENST00000317896.11 hg38 chr6 26,087,281 26,095,217 7,937
ENST00000309234.11 hg38 chr6 26,087,437 26,094,553 7,117
ENST00000714164.1 hg38 chr6 26,087,424 26,098,335 10,912
ENST00000397022.7 hg38 chr6 26,087,281 26,094,368 7,088
ENST00000485729.2 hg38 chr6 26,087,431 26,095,472 8,042
ENST00000352392.8 hg38 chr6 26,087,281 26,094,488 7,208
ENST00000714174.1 hg38 chr6 26,087,429 26,096,814 9,386
ENST00000714172.1 hg38 chr6 26,087,425 26,097,781 10,357
ENST00000714173.1 hg38 chr6 26,087,429 26,088,759 1,331
ENST00000349999.8 hg38 chr6 26,087,281 26,094,987 7,707
ENST00000714170.1 hg38 chr6 26,087,415 26,096,823 9,409
ENST00000488199.5 hg38 chr6 26,087,405 26,094,230 6,826
ENST00000714169.1 hg38 chr6 26,087,391 26,087,823 433
ENST00000353147.9 hg19 chr6 26,087,509 26,094,596 7,088
ENST00000397022.7 hg19 chr6 26,087,509 26,094,596 7,088
ENST00000352392.8 hg19 chr6 26,087,509 26,094,716 7,208
ENST00000349999.8 hg19 chr6 26,087,509 26,095,215 7,707
ENST00000317896.11 hg19 chr6 26,087,509 26,095,445 7,937
ENST00000461397.6 hg19 chr6 26,087,547 26,094,458 6,912
ENST00000488199.5 hg19 chr6 26,087,633 26,094,458 6,826
ENST00000309234.11 hg19 chr6 26,087,665 26,094,781 7,117
ENST00000470149.5 hg19 chr6 26,087,620 26,094,490 6,871
ENST00000336625.12 hg19 chr6 26,087,625 26,094,485 6,861
ENST00000357618.10 hg19 chr6 26,087,657 26,098,571 10,915
ENST00000485729.2 hg19 chr6 26,087,659 26,095,700 8,042
ENST00000714164.1 hg19 chr6 26,087,652 26,098,563 10,912
ENST00000714169.1 hg19 chr6 26,087,619 26,088,051 433
ENST00000714170.1 hg19 chr6 26,087,643 26,097,051 9,409
ENST00000714172.1 hg19 chr6 26,087,653 26,098,009 10,357
ENST00000714173.1 hg19 chr6 26,087,657 26,088,987 1,331
ENST00000714174.1 hg19 chr6 26,087,657 26,097,042 9,386
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