chr3:10183857:T>A 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	chr3:10,183,857-10,183,857
hg38	chr3:10,142,173-10,142,173 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.326T>A	NP_000542.1:p.Ile109Asn
	NM_198156.2:c.326T>A	NP_937799.1:p.Ile109Asn
Ensemble	ENST00000256474.3:c.326T>A	ENST00000256474.3:p.Ile109Asn
	ENST00000345392.3:c.326T>A	ENST00000345392.3:p.Ile109Asn
	ENST00000696143.2:c.326T>A	ENST00000696143.2:p.Ile109Asn
	ENST00000696153.1:c.326T>A	ENST00000696153.1:p.Ile109Asn
	ENST00000713811.1:c.326T>A	ENST00000713811.1:p.Ile109Asn
	ENST00000713812.1:c.219+107T>A
	ENST00000713815.1:c.36+290T>A
	ENST00000713982.1:c.326T>A	ENST00000713982.1:p.Ile109Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM30221	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2012-08-02	criteria provided, single submitter	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2019-05-28	criteria provided, conflicting interpretations	Von Hippel-Lindau syndrome	germline unknown	Detail
Likely pathogenic	2023-09-05	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.326T>A (p.Ile109Asn) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) AND Hereditary cancer-predisposing syndrome	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: rs398123482 dbSNP
Genome: hg19
Position: chr3:10,183,857-10,183,857
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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