VAV1 vav guanine nucleotide exchange factor 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
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Information

Symbol: VAV1
Type: protein-coding
Description: vav guanine nucleotide exchange factor 1
Entrez Gene ID: 7409
Genome: hg19
Position: chr19:6,772,719-6,857,372
Genome: hg38
Position: chr19:6,772,708-6,857,361
MIM: 164875 OMIM
HGNC: HGNC:12657 HGNC
Ensembl: ENSG00000141968 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	1	0
Benign	0	54
Likely benign	0	512
Conflicting classifications of pathogenicity	0	10
not provided	22	0
Uncertain significance	0	358

Ranking

	ClinVar
	0
	0
	66
	844
	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

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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	VAV
MIM	164875 OMIM
HGNC	HGNC:12657 HGNC
Ensembl	ENSG00000141968 Ensembl
AllianceGenome	HGNC:12657

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000596764.5	hg38	chr19	6,772,728	6,857,360	84,633
ENST00000602142.6	hg38	chr19	6,772,708	6,857,361	84,654
ENST00000539284.2	hg38	chr19	6,816,436	6,857,364	40,929
ENST00000599806.5	hg38	chr19	6,784,118	6,857,366	73,249
ENST00000304076.6	hg38	chr19	6,772,714	6,857,366	84,653
ENST00000602142.6	hg19	chr19	6,772,719	6,857,372	84,654
ENST00000304076.6	hg19	chr19	6,772,725	6,857,377	84,653
ENST00000596764.5	hg19	chr19	6,772,739	6,857,371	84,633
ENST00000599806.5	hg19	chr19	6,784,129	6,857,377	73,249
ENST00000539284.2	hg19	chr19	6,816,447	6,857,375	40,929

Key	Value
strand	+
UniProt	OG
start	6,772,678
Gene Symbol	VAV1
Entrez GeneId	7,409
Chr Band	19p13.3
end	6,857,376
chr	chr19

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