HJV hemojuvelin BMP co-receptor

Information
Symbol
HJV
Type
protein-coding
Description
hemojuvelin BMP co-receptor
Entrez Gene ID
148738
Genome
hg19
Position
chr1:145,413,278-145,417,543
Genome
hg38
Position
chr1:146,017,470-146,021,735
MIM
608374 OMIM
HGNC
HGNC:4887 HGNC
Ensembl
ENSG00000168509 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 94
Likely pathogenic 0 28
Benign 0 14
Likely benign 0 406
Conflicting classifications of pathogenicity 0 28
not provided 5 0
Uncertain significance 0 174
Ranking
ClinVar
0
0
44
660
4
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 :
Filtering :
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 HFE2
SYNONYM HFE2A
SYNONYM JH
SYNONYM RGMC
MIM 608374 OMIM
HGNC HGNC:4887 HGNC
Ensembl ENSG00000168509 Ensembl
AllianceGenome HGNC:4887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000497365.5 hg38 chr1 146,017,468 146,021,735 4,268
ENST00000634927.1 hg38 chr1 146,018,567 146,021,735 3,169
ENST00000636675.1 hg38 chr1 146,017,547 146,036,746 19,200
ENST00000336751.11 hg38 chr1 146,017,470 146,021,735 4,266
ENST00000357836.5 hg38 chr1 146,017,470 146,021,918 4,449
ENST00000475797.1 hg38 chr1 146,017,468 146,021,734 4,267
ENST00000336751.11 hg19 chr1 145,413,278 145,417,543 4,266
ENST00000357836.5 hg19 chr1 145,413,095 145,417,543 4,449
ENST00000475797.1 hg19 chr1 145,413,279 145,417,545 4,267
ENST00000497365.5 hg19 chr1 145,413,278 145,417,545 4,268
ENST00000636675.1 hg19 chr1 145,398,250 145,417,466 19,217
ENST00000634927.1 hg19 chr1 145,413,278 145,416,446 3,169
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