CIC capicua transcriptional repressor

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CIC
Type: protein-coding
Description: capicua transcriptional repressor
Entrez Gene ID: 23152
Genome: hg19
Position: chr19:42,773,404-42,799,948
Genome: hg38
Position: chr19:42,269,252-42,295,796
MIM: 612082 OMIM
HGNC: HGNC:14214 HGNC
Ensembl: ENSG00000079432 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	38
Likely pathogenic	0	64
Benign	0	62
Likely benign	0	396
Conflicting classifications of pathogenicity	0	26
not provided	50	34
Uncertain significance	1	512

Ranking

	ClinVar
	0
	0
	124
	902
	24

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

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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	MRD45
MIM	612082 OMIM
HGNC	HGNC:14214 HGNC
Ensembl	ENSG00000079432 Ensembl
AllianceGenome	HGNC:14214

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000575354.6	hg38	chr19	42,284,665	42,295,797	11,133
ENST00000160740.7	hg38	chr19	42,284,020	42,295,796	11,777
ENST00000681038.1	hg38	chr19	42,269,252	42,295,796	26,545
ENST00000572681.6	hg38	chr19	42,268,537	42,295,796	27,260
ENST00000572681.6	hg19	chr19	42,772,689	42,799,948	27,260
ENST00000681038.1	hg19	chr19	42,773,404	42,799,948	26,545
ENST00000160740.7	hg19	chr19	42,788,172	42,799,948	11,777
ENST00000575354.6	hg19	chr19	42,788,817	42,799,949	11,133

Key	Value
strand	+
start	42,772,688
Vogelstein	TSG
Gene Symbol	CIC
Entrez GeneId	23,152
Chr Band	19q13.2
end	42,799,947
chr	chr19
Name	capicua homolog

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