chr3:10188306:A> 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	chr3:10,188,306-10,188,306
hg38	chr3:10,146,622-10,146,622

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.449delA	NP_000542.1:p.Asn150IlefsTer9
	NM_198156.2:c.341-3165delA
Ensemble	ENST00000713982.1:c.354delA	ENST00000713982.1:p.Gln118HisfsTer65
	ENST00000256474.3:c.449delA	ENST00000256474.3:p.Asn150IlefsTer9
	ENST00000345392.3:c.341-3165delA
	ENST00000696143.2:c.*18-3165delA
	ENST00000696153.1:c.449delA	ENST00000696153.1:p.Asn150IlefsTer19
	ENST00000713811.1:c.449delA	ENST00000713811.1:p.Asn150IlefsTer103
	ENST00000713812.1:c.328delA	ENST00000713812.1:p.Ile110TyrfsTer23
	ENST00000713815.1:c.145delA	ENST00000713815.1:p.Ile49TyrfsTer23

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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	COSM17843	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
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 Likely pathogenic	2019-01-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-08-01	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2023-04-12	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2023-04-12	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000551.4(VHL):c.449del (p.Asn150fs) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.449del (p.Asn150fs) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.449del (p.Asn150fs) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.449del (p.Asn150fs) AND multiple conditions	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: rs794727253 dbSNP
Genome: hg19
Position: chr3:10,188,306-10,188,306
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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