chr3:10183722:G>C Detail (hg19) (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	chr3:10,183,722-10,183,722
hg38	chr3:10,142,038-10,142,038 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.191G>C	NP_000542.1:p.Arg64Pro
	NM_198156.2:c.191G>C	NP_937799.1:p.Arg64Pro
Ensemble	ENST00000256474.3:c.191G>C	ENST00000256474.3:p.Arg64Pro
	ENST00000345392.3:c.191G>C	ENST00000345392.3:p.Arg64Pro
	ENST00000696143.2:c.191G>C	ENST00000696143.2:p.Arg64Pro
	ENST00000696153.1:c.191G>C	ENST00000696153.1:p.Arg64Pro
	ENST00000713811.1:c.191G>C	ENST00000713811.1:p.Arg64Pro
	ENST00000713812.1:c.191G>C	ENST00000713812.1:p.Arg64Pro
	ENST00000713815.1:c.36+155G>C
	ENST00000713982.1:c.191G>C	ENST00000713982.1:p.Arg64Pro

Summary

MGeND

Clinical significance
Variant entry
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	COSM6444480	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1998-07-29	no assertion criteria provided	pheochromocytoma	germline	Detail
Pathogenic	2019-04-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-08-01	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-08-24	criteria provided, multiple submitters, no conflicts	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	17661816	Detail

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, r...	CIViC Evidence	Detail
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND Pheochromocytoma	ClinVar	Detail
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) 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: rs104893826 dbSNP
Genome: hg19
Position: chr3:10,183,722-10,183,722
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Variant (CIViC) (CIViC Variant): R64P (c.191G>C)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1867

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