CBFB core-binding factor subunit beta

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Clinical Significance
Ranking
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Disease area statistics
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Information

Symbol: CBFB
Type: protein-coding
Description: core-binding factor subunit beta
Entrez Gene ID: 865
Genome: hg19
Position: chr16:67,063,052-67,134,961
Genome: hg38
Position: chr16:67,029,149-67,101,058
MIM: 121360 OMIM
HGNC: HGNC:1539 HGNC
Ensembl: ENSG00000067955 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	10
Likely benign	0	4
not provided	7	0
Uncertain significance	0	12

Ranking

	ClinVar
	0
	0
	0
	26
	2

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
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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	CLCD2
SYNONYM	PEBP2B
MIM	121360 OMIM
HGNC	HGNC:1539 HGNC
Ensembl	ENSG00000067955 Ensembl
AllianceGenome	HGNC:1539

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000561924.6	hg38	chr16	67,029,116	67,098,811	69,696
ENST00000412916.7	hg38	chr16	67,029,149	67,101,058	71,910
ENST00000290858.11	hg38	chr16	67,029,149	67,101,058	71,910
ENST00000561924.6	hg19	chr16	67,063,019	67,132,714	69,696
ENST00000290858.11	hg19	chr16	67,063,052	67,134,961	71,910
ENST00000412916.7	hg19	chr16	67,063,052	67,134,961	71,910

Key	Value
strand	+
UniProt	OG
start	67,063,049
Gene Symbol	CBFB
Entrez GeneId	865
Chr Band	16q22
end	67,134,957
chr	chr16
Name	core-binding factor, beta subunit

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