chr3:10191484: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	chr3:10,191,484-10,191,484
hg38	chr3:10,149,800-10,149,800

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.477delA	NP_000542.1:p.Glu160SerfsTer10
	NM_198156.2:c.354delA	NP_937799.1:p.Glu119SerfsTer10
Ensemble	ENST00000256474.3:c.477delA	ENST00000256474.3:p.Glu160SerfsTer10
	ENST00000345392.3:c.354delA	ENST00000345392.3:p.Glu119SerfsTer10
	ENST00000696143.2:c.*31delA
	ENST00000696153.1:c.588delA	ENST00000696153.1:p.Glu197SerfsTer10
	ENST00000713811.1:c.592delA	ENST00000713811.1:p.Arg198GlufsTer55
	ENST00000713812.1:c.*2delA
	ENST00000713815.1:c.*2delA
	ENST00000713982.1:c.382delA	ENST00000713982.1:p.Arg128GlufsTer55

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM34030	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-08-21	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2016-02-26	no assertion criteria provided	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2024-01-30	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2024-01-30	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2019-01-17	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-12-08	criteria provided, single submitter	Chuvash polycythemia	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	9829911	Detail

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu...	CIViC Evidence	Detail
NM_000551.4(VHL):c.477del (p.Glu160fs) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.477del (p.Glu160fs) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.477del (p.Glu160fs) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.477del (p.Glu160fs) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.477del (p.Glu160fs) AND not specified	ClinVar	Detail
NM_000551.4(VHL):c.477del (p.Glu160fs) AND Chuvash polycythemia	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: rs730882020 dbSNP
Genome: hg19
Position: chr3:10,191,484-10,191,484
Variant Type: snv
Reference Allele: A
Alternative Allele: -
Variant (CIViC) (CIViC Variant): K159fs (c.475delA)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2098

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