CDKN1A cyclin dependent kinase inhibitor 1A

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: CDKN1A
Type: protein-coding
Description: cyclin dependent kinase inhibitor 1A
Entrez Gene ID: 1026
Genome: hg19
Position: chr6:36,646,491-36,655,109
Genome: hg38
Position: chr6:36,678,714-36,687,332
MIM: 116899 OMIM
HGNC: HGNC:1784 HGNC
Ensembl: ENSG00000124762 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	6
Likely benign	0	14
Conflicting classifications of pathogenicity	0	2
not provided	9	2
Uncertain significance	0	14

Ranking

	ClinVar
	0
	0
	2
	24
	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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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	CAP20
SYNONYM	CDKN1
SYNONYM	CIP1
SYNONYM	MDA-6
SYNONYM	P21
SYNONYM	SDI1
SYNONYM	WAF1
SYNONYM	p21CIP1
MIM	116899 OMIM
HGNC	HGNC:1784 HGNC
Ensembl	ENSG00000124762 Ensembl
AllianceGenome	HGNC:1784

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000244741.10	hg38	chr6	36,678,714	36,687,332	8,619
ENST00000615513.4	hg38	chr6	36,676,460	36,687,337	10,878
ENST00000448526.6	hg38	chr6	36,676,490	36,687,337	10,848
ENST00000373711.3	hg38	chr6	36,678,721	36,685,924	7,204
ENST00000405375.5	hg38	chr6	36,678,710	36,687,337	8,628
ENST00000615513.4	hg19	chr6	36,644,237	36,655,114	10,878
ENST00000448526.6	hg19	chr6	36,644,267	36,655,114	10,848
ENST00000405375.5	hg19	chr6	36,646,487	36,655,114	8,628
ENST00000244741.10	hg19	chr6	36,646,491	36,655,109	8,619
ENST00000373711.3	hg19	chr6	36,646,498	36,653,701	7,204

Key	Value
strand	+
start	36,644,236
Gene Symbol	CDKN1A
Entrez GeneId	1,026
Chr Band	6p21.2
end	36,655,115
chr	chr6

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