chr3:10146544:C>T 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	chr3:10,188,228-10,188,228 View the variant detail on this assembly version.
hg38	chr3:10,146,544-10,146,544

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.371C>T	NP_000542.1:p.Thr124Ile
	NM_198156.2:c.341-3243C>T
Ensemble	ENST00000256474.3:c.371C>T	ENST00000256474.3:p.Thr124Ile
	ENST00000345392.3:c.341-3243C>T
	ENST00000696143.2:c.*18-3243C>T
	ENST00000696153.1:c.371C>T	ENST00000696153.1:p.Thr124Ile
	ENST00000713811.1:c.371C>T	ENST00000713811.1:p.Thr124Ile
	ENST00000713812.1:c.250C>T	ENST00000713812.1:p.His84Tyr
	ENST00000713815.1:c.67C>T	ENST00000713815.1:p.His23Tyr
	ENST00000713982.1:c.341-65C>T

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
	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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Likely pathogenic	2017-01-23	criteria provided, single submitter	not provided	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.371C>T (p.Thr124Ile) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) AND not provided	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: rs193922610 dbSNP
Genome: hg38
Position: chr3:10,146,544-10,146,544
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): T124I (c.371C>T)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2054

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