VHL von Hippel-Lindau tumor suppressor

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Information
Clinical Significance
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Frequency
Disease area statistics
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Information

Symbol: VHL
Type: protein-coding
Description: von Hippel-Lindau tumor suppressor
Entrez Gene ID: 7428
Genome: hg19
Position: chr3:10,183,462-10,195,351
Genome: hg38
Position: chr3:10,141,778-10,153,667
MIM: 608537 OMIM
HGNC: HGNC:12687 HGNC
Ensembl: ENSG00000134086 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	345	544
Likely pathogenic	62	258
Benign	0	172
Likely benign	0	762
Conflicting classifications of pathogenicity	0	258
not provided	96	2
Uncertain significance	13	1,714

Ranking

	ClinVar
	0
	0
	1,116
	2,114
	96

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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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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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	HRCA1
SYNONYM	RCA1
SYNONYM	VHL1
SYNONYM	pVHL
MIM	608537 OMIM
HGNC	HGNC:12687 HGNC
Ensembl	ENSG00000134086 Ensembl
AllianceGenome	HGNC:12687

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000696143.2	hg38	chr3	10,141,816	10,153,667	11,852
ENST00000696153.1	hg38	chr3	10,141,778	10,153,667	11,890
ENST00000713815.1	hg38	chr3	10,141,797	10,153,667	11,871
ENST00000713811.1	hg38	chr3	10,141,778	10,153,667	11,890
ENST00000713812.1	hg38	chr3	10,141,786	10,153,667	11,882
ENST00000256474.3	hg38	chr3	10,141,778	10,153,667	11,890
ENST00000713982.1	hg38	chr3	10,141,778	10,153,667	11,890
ENST00000345392.3	hg38	chr3	10,141,788	10,153,667	11,880
ENST00000256474.3	hg19	chr3	10,183,462	10,195,351	11,890
ENST00000696153.1	hg19	chr3	10,183,462	10,195,351	11,890
ENST00000713811.1	hg19	chr3	10,183,462	10,195,351	11,890
ENST00000713982.1	hg19	chr3	10,183,462	10,195,351	11,890
ENST00000713812.1	hg19	chr3	10,183,470	10,195,351	11,882
ENST00000345392.3	hg19	chr3	10,183,472	10,195,351	11,880
ENST00000713815.1	hg19	chr3	10,183,481	10,195,351	11,871
ENST00000696143.2	hg19	chr3	10,183,500	10,195,351	11,852

Key	Value
strand	+
UniProt	TSG
start	10,183,318
Vogelstein	TSG
Gene Symbol	VHL
Entrez GeneId	7,428
Chr Band	3p25
end	10,195,353
chr	chr3
Name	von Hippel-Lindau syndrome gene

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