IKBKB inhibitor of nuclear factor kappa B kinase subunit beta

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: IKBKB
Type: protein-coding
Description: inhibitor of nuclear factor kappa B kinase subunit beta
Entrez Gene ID: 3551
Genome: hg19
Position: chr8:42,128,820-42,189,978
Genome: hg38
Position: chr8:42,271,302-42,332,460
MIM: 603258 OMIM
HGNC: HGNC:5960 HGNC
Ensembl: ENSG00000104365 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	32
Likely pathogenic	0	14
Benign	0	92
Likely benign	0	790
Conflicting classifications of pathogenicity	0	20
Uncertain significance	0	390

Ranking

	ClinVar
	0
	0
	78
	1,228
	6

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

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	IKK-2
SYNONYM	IKK-beta
SYNONYM	IKK2
SYNONYM	IKKB
SYNONYM	IMD15
SYNONYM	IMD15A
SYNONYM	IMD15B
SYNONYM	NFKBIKB
MIM	603258 OMIM
HGNC	HGNC:5960 HGNC
Ensembl	ENSG00000104365 Ensembl
AllianceGenome	HGNC:5960

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000522147.4	hg38	chr8	42,272,083	42,332,037	59,955
ENST00000520835.7	hg38	chr8	42,271,318	42,331,067	59,750
ENST00000518983.1	hg38	chr8	42,271,370	42,272,429	1,060
ENST00000520810.6	hg38	chr8	42,271,302	42,332,460	61,159
ENST00000518983.1	hg19	chr8	42,128,888	42,129,947	1,060
ENST00000520810.6	hg19	chr8	42,128,820	42,189,978	61,159
ENST00000520835.7	hg19	chr8	42,128,836	42,188,585	59,750
ENST00000522147.4	hg19	chr8	42,129,601	42,189,555	59,955

Key	Value
strand	+
start	42,128,819
Gene Symbol	IKBKB
Entrez GeneId	3,551
Chr Band	8p11.2
end	42,190,170
chr	chr8
Name	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta

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