chr3:10149796:T>A Detail (hg38) (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	chr3:10,191,480-10,191,480 View the variant detail on this assembly version.
hg38	chr3:10,149,796-10,149,796

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.473T>A	NP_000542.1:p.Leu158Gln
	NM_198156.2:c.350T>A	NP_937799.1:p.Leu117Gln
Ensemble	ENST00000256474.3:c.473T>A	ENST00000256474.3:p.Leu158Gln
	ENST00000345392.3:c.350T>A	ENST00000345392.3:p.Leu117Gln
	ENST00000696143.2:c.*27T>A
	ENST00000696153.1:c.584T>A	ENST00000696153.1:p.Leu195Gln
	ENST00000713811.1:c.588T>A	ENST00000713811.1:p.Ser196=
	ENST00000713812.1:c.352T>A	ENST00000713812.1:p.Ter118Argext*?
	ENST00000713815.1:c.169T>A	ENST00000713815.1:p.Ter57Argext*?
	ENST00000713982.1:c.378T>A	ENST00000713982.1:p.Ser126=

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	COSM14368	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		(mono-symptomatic) Renal Cell Carcinoma	somatic	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	Papillary renal cell carcinoma type 1	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.125	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000551.4(VHL):c.473T>A (p.Leu158Gln) AND Papillary renal cell carcinoma type 1	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: rs121913346 dbSNP
Genome: hg38
Position: chr3:10,149,796-10,149,796
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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