CDKN1B cyclin dependent kinase inhibitor 1B

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Clinical Significance
Ranking
Frequency
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Information

Symbol: CDKN1B
Type: protein-coding
Description: cyclin dependent kinase inhibitor 1B
Entrez Gene ID: 1027
Genome: hg19
Position: chr12:12,870,302-12,875,146
Genome: hg38
Position: chr12:12,717,368-12,722,212
MIM: 600778 OMIM
HGNC: HGNC:1785 HGNC
Ensembl: ENSG00000111276 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	132
Likely pathogenic	1	22
Benign	5	68
Likely benign	0	444
Conflicting classifications of pathogenicity	0	142
not provided	56	2
Uncertain significance	4	1,020

Ranking

	ClinVar
	0
	0
	640
	996
	10

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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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	CDKN4
SYNONYM	KIP1
SYNONYM	MEN1B
SYNONYM	MEN4
SYNONYM	P27KIP1
MIM	600778 OMIM
HGNC	HGNC:1785 HGNC
Ensembl	ENSG00000111276 Ensembl
AllianceGenome	HGNC:1785

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000614874.2	hg38	chr12	12,717,368	12,722,212	4,845
ENST00000228872.9	hg38	chr12	12,717,368	12,722,369	5,002
ENST00000396340.1	hg38	chr12	12,717,822	12,721,468	3,647
ENST00000614874.2	hg19	chr12	12,870,302	12,875,146	4,845
ENST00000228872.9	hg19	chr12	12,870,302	12,875,303	5,002
ENST00000396340.1	hg19	chr12	12,870,756	12,874,402	3,647

Key	Value
strand	+
UniProt	OG
start	12,870,203
Gene Symbol	CDKN1B
Entrez GeneId	1,027
Chr Band	12p13.1-p12
end	12,875,315
chr	chr12
Name	cyclin-dependent kinase inhibitor 1B (p27, Kip1)

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