chr3:10183745:T> Detail (hg19) (VHL)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:10,183,745-10,183,745
hg38	chr3:10,142,061-10,142,061

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.214delT	NP_000542.1:p.Ser72ProfsTer87
	NM_198156.2:c.214delT	NP_937799.1:p.Ser72ProfsTer46
Ensemble	ENST00000256474.3:c.214delT	ENST00000256474.3:p.Ser72ProfsTer87
	ENST00000345392.3:c.214delT	ENST00000345392.3:p.Ser72ProfsTer46
	ENST00000696143.2:c.214delT	ENST00000696143.2:p.Ser72ProfsTer45
	ENST00000696153.1:c.214delT	ENST00000696153.1:p.Ser72ProfsTer97
	ENST00000713811.1:c.214delT	ENST00000713811.1:p.Ser72ProfsTer181
	ENST00000713812.1:c.214delT	ENST00000713812.1:p.Ser72ProfsTer19
	ENST00000713815.1:c.36+178delT
	ENST00000713982.1:c.214delT	ENST00000713982.1:p.Ser72ProfsTer111

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	2
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
	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
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

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	4	17024664	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ...	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: hg19
Position: chr3:10,183,745-10,183,745
Variant Type: snv
Reference Allele: T
Alternative Allele: -
Variant (CIViC) (CIViC Variant): S72P (c.214delT)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1816

Genome browser