chr3:10183723:C> Detail (hg19) (VHL)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:10,183,723-10,183,723
hg38	chr3:10,142,039-10,142,039

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.192delC	NP_000542.1:p.Ser65ArgfsTer2
	NM_198156.2:c.192delC	NP_937799.1:p.Ser65ArgfsTer2
Ensemble	ENST00000256474.3:c.192delC	ENST00000256474.3:p.Ser65ArgfsTer2
	ENST00000345392.3:c.192delC	ENST00000345392.3:p.Ser65ArgfsTer2
	ENST00000696143.2:c.192delC	ENST00000696143.2:p.Ser65ArgfsTer2
	ENST00000696153.1:c.192delC	ENST00000696153.1:p.Ser65ArgfsTer2
	ENST00000713811.1:c.192delC	ENST00000713811.1:p.Ser65ArgfsTer2
	ENST00000713812.1:c.192delC	ENST00000713812.1:p.Ser65ArgfsTer2
	ENST00000713815.1:c.36+156delC
	ENST00000713982.1:c.192delC	ENST00000713982.1:p.Ser65ArgfsTer2

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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	COSM17681	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
Pathogenic	2014-06-25	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-02-03	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	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.192del (p.Ser65fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.192del (p.Ser65fs) AND Von Hippel-Lindau syndrome	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: rs730882031 dbSNP
Genome: hg19
Position: chr3:10,183,723-10,183,723
Variant Type: snv
Reference Allele: C
Alternative Allele: -

Genome browser