MBD2 methyl-CpG binding domain protein 2

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

Symbol: MBD2
Type: protein-coding
Description: methyl-CpG binding domain protein 2
Entrez Gene ID: 8932
Genome: hg19
Position: chr18:51,677,976-51,751,039
Genome: hg38
Position: chr18:54,151,606-54,224,669
MIM: 603547 OMIM
HGNC: HGNC:6917 HGNC
Ensembl: ENSG00000134046 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	2
Uncertain significance	0	48

Ranking

	ClinVar
	0
	0
	0
	50
	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
Category	:
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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	:
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	DMTase
SYNONYM	NY-CO-41
MIM	603547 OMIM
HGNC	HGNC:6917 HGNC
Ensembl	ENSG00000134046 Ensembl
AllianceGenome	HGNC:6917

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000256429.8	hg38	chr18	54,151,606	54,224,669	73,064
ENST00000583046.1	hg38	chr18	54,202,681	54,224,617	21,937
ENST00000398398.6	hg38	chr18	54,202,680	54,224,647	21,968
ENST00000256429.8	hg19	chr18	51,677,976	51,751,039	73,064
ENST00000398398.6	hg19	chr18	51,729,050	51,751,017	21,968
ENST00000583046.1	hg19	chr18	51,729,051	51,750,987	21,937

Key	Value
strand	-
start	51,677,970
Gene Symbol	MBD2
Entrez GeneId	8,932
Chr Band	18q21
end	51,751,157
chr	chr18

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