DDX6 DEAD-box helicase 6

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: DDX6
Type: protein-coding
Description: DEAD-box helicase 6
Entrez Gene ID: 1656
Genome: hg19
Position: chr11:118,618,472-118,661,873
Genome: hg38
Position: chr11:118,747,763-118,791,164
MIM: 600326 OMIM
HGNC: HGNC:2747 HGNC
Ensembl: ENSG00000110367 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	12
Likely pathogenic	0	4
Benign	0	14
Likely benign	0	16
Conflicting classifications of pathogenicity	0	2
Uncertain significance	0	58

Ranking

	ClinVar
	0
	0
	8
	80
	10

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	HLR2
SYNONYM	IDDILF
SYNONYM	P54
SYNONYM	RCK
SYNONYM	Rck/p54
MIM	600326 OMIM
HGNC	HGNC:2747 HGNC
Ensembl	ENSG00000110367 Ensembl
AllianceGenome	HGNC:2747

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000620157.4	hg38	chr11	118,747,766	118,790,948	43,183
ENST00000534980.7	hg38	chr11	118,747,763	118,791,164	43,402
ENST00000526070.2	hg38	chr11	118,754,589	118,790,948	36,360
ENST00000534980.7	hg19	chr11	118,618,472	118,661,873	43,402
ENST00000620157.4	hg19	chr11	118,618,475	118,661,657	43,183
ENST00000526070.2	hg19	chr11	118,625,298	118,661,657	36,360

Key	Value
strand	-
UniProt	OG
start	118,618,472
Gene Symbol	DDX6
Entrez GeneId	1,656
Chr Band	11q23.3
end	118,661,971
chr	chr11
Name	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6

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