chr3:10191504:T>C 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	chr3:10,191,504-10,191,504
hg38	chr3:10,149,820-10,149,820 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.497T>C	NP_000542.1:p.Val166Ala
	NM_198156.2:c.374T>C	NP_937799.1:p.Val125Ala
Ensemble	ENST00000256474.3:c.497T>C	ENST00000256474.3:p.Val166Ala
	ENST00000345392.3:c.374T>C	ENST00000345392.3:p.Val125Ala
	ENST00000696143.2:c.*51T>C
	ENST00000696153.1:c.608T>C	ENST00000696153.1:p.Val203Ala
	ENST00000713811.1:c.612T>C	ENST00000713811.1:p.Cys204=
	ENST00000713812.1:c.*22T>C
	ENST00000713815.1:c.*22T>C
	ENST00000713982.1:c.402T>C	ENST00000713982.1:p.Cys134=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-08-01	criteria provided, multiple submitters, no conflicts	Von Hippel-Lindau syndrome	germline	Detail
Likely pathogenic	2018-03-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		no assertion criteria provided	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail
0.125	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000551.4(VHL):c.497T>C (p.Val166Ala) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.497T>C (p.Val166Ala) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.497T>C (p.Val166Ala) AND not provided	ClinVar	Detail
NA	DisGeNET	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: rs397516445 dbSNP
Genome: hg19
Position: chr3:10,191,504-10,191,504
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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