CDKN2B cyclin dependent kinase inhibitor 2B

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CDKN2B
Type: protein-coding
Description: cyclin dependent kinase inhibitor 2B
Entrez Gene ID: 1030
Genome: hg19
Position: chr9:22,002,902-22,009,304
Genome: hg38
Position: chr9:22,002,903-22,009,305
MIM: 600431 OMIM
HGNC: HGNC:1788 HGNC
Ensembl: ENSG00000147883 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	8
Benign	0	10
Likely benign	0	16
Conflicting classifications of pathogenicity	0	2
Likely pathogenic; protective	0	2
not provided	8	0
Uncertain significance	1	30

Ranking

	ClinVar
	0
	0
	0
	52
	14

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

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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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Target data	:	MGeND data only
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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

Search Word

Target data	:	MGeND data only
Category	:
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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	CDK4I
SYNONYM	INK4B
SYNONYM	MTS2
SYNONYM	P15
SYNONYM	TP15
SYNONYM	p15INK4b
MIM	600431 OMIM
HGNC	HGNC:1788 HGNC
Ensembl	ENSG00000147883 Ensembl
AllianceGenome	HGNC:1788

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000380142.5	hg38	chr9	22,004,748	22,009,272	4,525
ENST00000276925.7	hg38	chr9	22,002,903	22,009,305	6,403
ENST00000276925.7	hg19	chr9	22,002,902	22,009,304	6,403
ENST00000380142.5	hg19	chr9	22,004,747	22,009,271	4,525

Key	Value
strand	-
UniProt	TSG
start	22,002,901
Gene Symbol	CDKN2B
Entrez GeneId	1,030
Chr Band	9p21
end	22,009,311
chr	chr9

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