CILK1 ciliogenesis associated kinase 1

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

Symbol: CILK1
Type: protein-coding
Description: ciliogenesis associated kinase 1
Entrez Gene ID: 22858
Genome: hg19
Position: chr6:52,866,077-52,926,568
Genome: hg38
Position: chr6:53,001,279-53,061,770
MIM: 612325 OMIM
HGNC: HGNC:21219 HGNC
Ensembl: ENSG00000112144 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	4
Likely pathogenic	0	4
Benign	0	52
Likely benign	0	138
Conflicting classifications of pathogenicity	0	8
risk factor	0	2
Uncertain significance	0	184

Ranking

	ClinVar
	0
	0
	64
	292
	12

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

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	ECO
SYNONYM	EJM10
SYNONYM	ICK
SYNONYM	LCK2
SYNONYM	MRK
SYNONYM	hICK
MIM	612325 OMIM
HGNC	HGNC:21219 HGNC
Ensembl	ENSG00000112144 Ensembl
AllianceGenome	HGNC:21219

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000350082.10	hg38	chr6	53,001,279	53,061,770	60,492
ENST00000356971.3	hg38	chr6	53,001,311	53,061,802	60,492
ENST00000676107.1	hg38	chr6	53,001,303	53,061,824	60,522
ENST00000350082.10	hg19	chr6	52,866,077	52,926,568	60,492
ENST00000676107.1	hg19	chr6	52,866,101	52,926,622	60,522
ENST00000356971.3	hg19	chr6	52,866,109	52,926,600	60,492

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