chr3:10146517:A>G Detail (hg38) (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	chr3:10,188,201-10,188,201 View the variant detail on this assembly version.
hg38	chr3:10,146,517-10,146,517

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.344A>G	NP_000542.1:p.His115Arg
	NM_198156.2:c.341-3270A>G
Ensemble	ENST00000256474.3:c.344A>G	ENST00000256474.3:p.His115Arg
	ENST00000345392.3:c.341-3270A>G
	ENST00000696143.2:c.*18-3270A>G
	ENST00000696153.1:c.344A>G	ENST00000696153.1:p.His115Arg
	ENST00000713811.1:c.344A>G	ENST00000713811.1:p.His115Arg
	ENST00000713812.1:c.223A>G	ENST00000713812.1:p.Thr75Ala
	ENST00000713815.1:c.40A>G	ENST00000713815.1:p.Thr14Ala
	ENST00000713982.1:c.341-92A>G

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	COSM6196869	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other phakomatoses, not elsewhere classified	germline	MGS000077 (TMGS000152)	Kenji Tamura	Kochi University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-08-04	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2023-08-04	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2022-11-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	8707293	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	22357542	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail
0.658	Von Hippel-Lindau syndrome	Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an im...	BeFree	18836774	Detail

Annotation

Annotations

Descrption	Source	Links
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu...	CIViC Evidence	Detail
Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline muta...	CIViC Evidence	Detail
NM_000551.4(VHL):c.344A>G (p.His115Arg) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.344A>G (p.His115Arg) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.344A>G (p.His115Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an important candidate fo...	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: rs5030812 dbSNP
Genome: hg38
Position: chr3:10,146,517-10,146,517
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Variant (CIViC) (CIViC Variant): H115R (c.344A>G)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2000

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