MBD6 methyl-CpG binding domain protein 6

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: MBD6
Type: protein-coding
Description: methyl-CpG binding domain protein 6
Entrez Gene ID: 114785
Genome: hg19
Position: chr12:57,916,607-57,923,931
Genome: hg38
Position: chr12:57,522,824-57,530,148
MIM: 619458 OMIM
HGNC: HGNC:20445 HGNC
Ensembl: ENSG00000166987 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	12
Likely benign	0	22
not provided	0	2
Uncertain significance	0	128

Ranking

	ClinVar
	0
	0
	8
	152
	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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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
MIM	619458 OMIM
HGNC	HGNC:20445 HGNC
Ensembl	ENSG00000166987 Ensembl
AllianceGenome	HGNC:20445

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000355673.8	hg38	chr12	57,522,824	57,530,148	7,325
ENST00000355673.8	hg19	chr12	57,916,607	57,923,931	7,325

Key	Value
strand	+
start	57,916,658
Gene Symbol	MBD6
Entrez GeneId	114,785
Chr Band	12
end	57,923,930
chr	chr12

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