chr3:10142041:C>A Detail (hg38) (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	chr3:10,183,725-10,183,725 View the variant detail on this assembly version.
hg38	chr3:10,142,041-10,142,041

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.194C>A	NP_000542.1:p.Ser65Ter
	NM_198156.2:c.194C>A	NP_937799.1:p.Ser65Ter
Ensemble	ENST00000713812.1:c.194C>A	ENST00000713812.1:p.Ser65Ter
	ENST00000713815.1:c.36+158C>A
	ENST00000713811.1:c.194C>A	ENST00000713811.1:p.Ser65Ter
	ENST00000256474.3:c.194C>A	ENST00000256474.3:p.Ser65Ter
	ENST00000345392.3:c.194C>A	ENST00000345392.3:p.Ser65Ter
	ENST00000696143.2:c.194C>A	ENST00000696143.2:p.Ser65Ter
	ENST00000696153.1:c.194C>A	ENST00000696153.1:p.Ser65Ter
	ENST00000713982.1:c.194C>A	ENST00000713982.1:p.Ser65Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	COSM18015	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-05-21	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2019-09-23	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2019-09-23	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2022-12-15	criteria provided, single submitter	Chuvash polycythemia	germline	Detail
Pathogenic	2022-12-05	criteria provided, single submitter	not provided	germline	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
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	11409863	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail
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
43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL muta...	CIViC Evidence	Detail
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) AND Chuvash polycythemia	ClinVar	Detail
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	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: rs5030826 dbSNP
Genome: hg38
Position: chr3:10,142,041-10,142,041
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): S65* (c.194C>A)
Transcript 1 (CIViC Variant): ENST
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1811

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