chr3:10146631:T>C Detail (hg38) (VHL)

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

Genome

Assembly	Position
hg19	chr3:10,188,315-10,188,315 View the variant detail on this assembly version.
hg38	chr3:10,146,631-10,146,631

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.458T>C	NP_000542.1:p.Leu153Pro
	NM_198156.2:c.341-3156T>C
Ensemble	ENST00000256474.3:c.458T>C	ENST00000256474.3:p.Leu153Pro
	ENST00000345392.3:c.341-3156T>C
	ENST00000696143.2:c.*18-3156T>C
	ENST00000696153.1:c.458T>C	ENST00000696153.1:p.Leu153Pro
	ENST00000713811.1:c.458T>C	ENST00000713811.1:p.Leu153Pro
	ENST00000713812.1:c.337T>C	ENST00000713812.1:p.Cys113Arg
	ENST00000713815.1:c.154T>C	ENST00000713815.1:p.Cys52Arg
	ENST00000713982.1:c.363T>C	ENST00000713982.1:p.Thr121=

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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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	COSM14363	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other phakomatoses, not elsewhere classified	germline	MGS000077 (TMGS000152)	Kenji Tamura	Kochi University

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	21463266	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	1	26763786	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 1...	CIViC Evidence	Detail
A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy...	CIViC Evidence	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: -
Genome: hg38
Position: chr3:10,146,631-10,146,631
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Variant (CIViC) (CIViC Variant): L153P (c.458T>C)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1923

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