CDKN1C cyclin dependent kinase inhibitor 1C

Go to:

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

Information

Symbol: CDKN1C
Type: protein-coding
Description: cyclin dependent kinase inhibitor 1C
Entrez Gene ID: 1028
Genome: hg19
Position: chr11:2,904,443-2,907,001
Genome: hg38
Position: chr11:2,883,213-2,885,771
MIM: 600856 OMIM
HGNC: HGNC:1786 HGNC
Ensembl: ENSG00000129757 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	25	194
Likely pathogenic	6	36
Benign	0	40
Likely benign	0	938
Conflicting classifications of pathogenicity	0	58
not provided	0	4
Uncertain significance	10	1,060

Ranking

	ClinVar
	0
	0
	268
	1,926
	36

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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	:
Search word	:
Filtering	:

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	BWCR
SYNONYM	BWS
SYNONYM	KIP2
SYNONYM	WBS
SYNONYM	p57
SYNONYM	p57Kip2
MIM	600856 OMIM
HGNC	HGNC:1786 HGNC
Ensembl	ENSG00000129757 Ensembl
AllianceGenome	HGNC:1786

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000414822.8	hg38	chr11	2,883,213	2,885,771	2,559
ENST00000647251.1	hg38	chr11	2,883,632	2,885,728	2,097
ENST00000380725.2	hg38	chr11	2,883,240	2,885,749	2,510
ENST00000440480.8	hg38	chr11	2,883,218	2,885,775	2,558
ENST00000430149.3	hg38	chr11	2,883,218	2,885,765	2,548
ENST00000414822.8	hg19	chr11	2,904,443	2,907,001	2,559
ENST00000430149.3	hg19	chr11	2,904,448	2,906,995	2,548
ENST00000440480.8	hg19	chr11	2,904,448	2,907,005	2,558
ENST00000380725.2	hg19	chr11	2,904,470	2,906,979	2,510
ENST00000647251.1	hg19	chr11	2,904,862	2,906,958	2,097

Key	Value
strand	-
UniProt	TSG
start	2,904,447
Gene Symbol	CDKN1C
Entrez GeneId	1,028
Chr Band	11p15.5
end	2,906,994
chr	chr11

Genome browser