chr3:10191621:GC> Detail (hg19) (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	chr3:10,191,621-10,191,622
hg38	chr3:10,149,937-10,149,938

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.614_615delGC	NP_000542.1:p.Arg205HisfsTer50
	NM_198156.2:c.491_492delGC	NP_937799.1:p.Arg164HisfsTer50
Ensemble	ENST00000256474.3:c.614_615delGC	ENST00000256474.3:p.Arg205HisfsTer50
	ENST00000345392.3:c.491_492delGC	ENST00000345392.3:p.Arg164HisfsTer50
	ENST00000696143.2:c.168_169delGC
	ENST00000696153.1:c.725_726delGC	ENST00000696153.1:p.Arg242HisfsTer50
	ENST00000713811.1:c.96_97delGC
	ENST00000713812.1:c.139_140delGC
	ENST00000713815.1:c.139_140delGC
	ENST00000713982.1:c.96_97delGC

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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	COSM249403	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
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: rs730882030 dbSNP
Genome: hg19
Position: chr3:10,191,621-10,191,622
Variant Type: snv
Reference Allele: GC
Alternative Allele: -

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