CDK4 cyclin dependent kinase 4

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CDK4
Type: protein-coding
Description: cyclin dependent kinase 4
Entrez Gene ID: 1019
Genome: hg19
Position: chr12:58,141,510-58,146,093
Genome: hg38
Position: chr12:57,747,727-57,752,310
MIM: 123829 OMIM
HGNC: HGNC:1773 HGNC
Ensembl: ENSG00000135446 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	6
Likely pathogenic	0	4
Benign	11	56
Likely benign	3	750
Conflicting classifications of pathogenicity	0	88
not provided	81	0
Uncertain significance	40	1,154

Ranking

	ClinVar
	0
	0
	686
	1,258
	8

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
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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	CMM3
SYNONYM	PSK-J3
MIM	123829 OMIM
HGNC	HGNC:1773 HGNC
Ensembl	ENSG00000135446 Ensembl
AllianceGenome	HGNC:1773

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000312990.10	hg38	chr12	57,747,727	57,752,447	4,721
ENST00000257904.11	hg38	chr12	57,747,727	57,752,310	4,584
ENST00000549606.5	hg38	chr12	57,748,426	57,752,353	3,928
ENST00000257904.11	hg19	chr12	58,141,510	58,146,093	4,584
ENST00000312990.10	hg19	chr12	58,141,510	58,146,230	4,721
ENST00000549606.5	hg19	chr12	58,142,209	58,146,136	3,928

Key	Value
strand	-
start	58,141,509
Gene Symbol	CDK4
Entrez GeneId	1,019
Chr Band	12q14
end	58,146,229
chr	chr12
Name	cyclin-dependent kinase 4

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