chr3:10188264:T>G 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	chr3:10,188,264-10,188,264
hg38	chr3:10,146,580-10,146,580 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.407T>G	NP_000542.1:p.Phe136Cys
	NM_198156.2:c.341-3207T>G
Ensemble	ENST00000256474.3:c.407T>G	ENST00000256474.3:p.Phe136Cys
	ENST00000345392.3:c.341-3207T>G
	ENST00000696143.2:c.*18-3207T>G
	ENST00000696153.1:c.407T>G	ENST00000696153.1:p.Phe136Cys
	ENST00000713811.1:c.407T>G	ENST00000713811.1:p.Phe136Cys
	ENST00000713812.1:c.286T>G	ENST00000713812.1:p.Leu96Val
	ENST00000713815.1:c.103T>G	ENST00000713815.1:p.Leu35Val
	ENST00000713982.1:c.341-29T>G

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM17971	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
Conflicting interpretations of pathogenicity	2017-02-02	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2018-08-01	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
adrenal gland pheochromocytoma		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	12000816	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	20846682	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.416	pheochromocytoma	Almost one fourth of patients with apparently sporadic pheochromocytoma may be c...	UNIPROT	12000816	Detail
0.658	Von Hippel-Lindau syndrome	The group of susceptibility genes for pheochromocytoma that included the proto-o...	UNIPROT	12000816	Detail

Annotation

Annotations

Descrption	Source	Links
Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-onc...	CIViC Evidence	Detail
26 VHL patients, from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma we...	CIViC Evidence	Detail
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) AND Von Hippel-Lindau syndrome	ClinVar	Detail
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations...	DisGeNET	Detail
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa...	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: rs5030833 dbSNP
Genome: hg19
Position: chr3:10,188,264-10,188,264
Variant Type: snv
Reference Allele: T
Alternative Allele: G
Variant (CIViC) (CIViC Variant): F136C (c.407T>G)
Transcript 1 (CIViC Variant): ENST
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1814

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