CEP89 centrosomal protein 89

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CEP89
Type: protein-coding
Description: centrosomal protein 89
Entrez Gene ID: 84902
Genome: hg19
Position: chr19:33,366,831-33,462,864
Genome: hg38
Position: chr19:32,875,925-32,971,958
MIM: 615470 OMIM
HGNC: HGNC:25907 HGNC
Ensembl: ENSG00000121289 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	62
Likely benign	0	142
Conflicting classifications of pathogenicity	0	6
Uncertain significance	0	246

Ranking

	ClinVar
	0
	0
	40
	406
	0

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

Search Word

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

Search Word

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
Category	:
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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	CCDC123
SYNONYM	CEP123
MIM	615470 OMIM
HGNC	HGNC:25907 HGNC
Ensembl	ENSG00000121289 Ensembl
AllianceGenome	HGNC:25907

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000590597.6	hg38	chr19	32,931,207	32,971,963	40,757
ENST00000591863.1	hg38	chr19	32,968,909	32,971,991	3,083
ENST00000305768.10	hg38	chr19	32,875,925	32,971,958	96,034
ENST00000305768.10	hg19	chr19	33,366,831	33,462,864	96,034
ENST00000590597.6	hg19	chr19	33,422,113	33,462,869	40,757
ENST00000591863.1	hg19	chr19	33,459,815	33,462,897	3,083

Key	Value
strand	-
start	33,369,903
Gene Symbol	CEP89
Entrez GeneId	84,902
Chr Band	19q13.11
end	33,462,934
chr	chr19
Name	centrosomal protein 89kDa

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