chr3:10191540:T>A Detail (hg19) (VHL, LOC107303340)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:10,191,540-10,191,540
hg38	chr3:10,149,856-10,149,856 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.533T>A	NP_000542.1:p.Leu178Gln
	NM_198156.2:c.410T>A	NP_937799.1:p.Leu137Gln
Ensemble	ENST00000256474.3:c.533T>A	ENST00000256474.3:p.Leu178Gln
	ENST00000345392.3:c.410T>A	ENST00000345392.3:p.Leu137Gln
	ENST00000696143.2:c.*87T>A
	ENST00000696153.1:c.644T>A	ENST00000696153.1:p.Leu215Gln
	ENST00000713811.1:c.*15T>A
	ENST00000713812.1:c.*58T>A
	ENST00000713815.1:c.*58T>A
	ENST00000713982.1:c.*15T>A

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

VHL

Type	Database	ID	Link
Gene	MIM	608537	OMIM
	HGNC	12687	HGNC
	Ensembl	ENSG00000134086	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-08-01	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	8707293	Detail
von Hippel-Lindau disease		B	Predisposing	N/A	N/A	Rare Germline	3	11850829	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu...	CIViC Evidence	Detail
36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6...	CIViC Evidence	Detail
NM_000551.4(VHL):c.533T>A (p.Leu178Gln) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs5030822 dbSNP
Genome: hg19
Position: chr3:10,191,540-10,191,540
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Variant (CIViC) (CIViC Variant): L178Q (c.533T>A)
Transcript 1 (CIViC Variant): ENST000002564742
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1997

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