ITIH4 inter-alpha-trypsin inhibitor heavy chain 4

Information
Symbol
ITIH4
Type
protein-coding
Description
inter-alpha-trypsin inhibitor heavy chain 4
Entrez Gene ID
3700
Genome
hg19
Position
chr3:52,846,978-52,864,688
Genome
hg38
Position
chr3:52,812,962-52,830,672
MIM
600564 OMIM
HGNC
HGNC:6169 HGNC
Ensembl
ENSG00000055955 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 40
Likely benign 0 34
Uncertain significance 0 86
Ranking
ClinVar
0
0
4
152
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 GP120
SYNONYM H4P
SYNONYM IHRP
SYNONYM ITI-HC4
SYNONYM ITIHL1
SYNONYM PK-120
SYNONYM PK120
MIM 600564 OMIM
HGNC HGNC:6169 HGNC
Ensembl ENSG00000055955 Ensembl
AllianceGenome HGNC:6169
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000406595.5 hg38 chr3 52,813,282 52,830,672 17,391
ENST00000485816.5 hg38 chr3 52,813,270 52,830,673 17,404
ENST00000266041.9 hg38 chr3 52,812,962 52,830,672 17,711
ENST00000266041.9 hg19 chr3 52,846,978 52,864,688 17,711
ENST00000485816.5 hg19 chr3 52,847,286 52,864,689 17,404
ENST00000406595.5 hg19 chr3 52,847,298 52,864,688 17,391
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