chr3:10149793: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	chr3:10,191,477-10,191,477 View the variant detail on this assembly version.
hg38	chr3:10,149,793-10,149,793

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.470C>T	NP_000542.1:p.Thr157Ile
	NM_198156.2:c.347C>T	NP_937799.1:p.Thr116Ile
Ensemble	ENST00000256474.3:c.470C>T	ENST00000256474.3:p.Thr157Ile
	ENST00000345392.3:c.347C>T	ENST00000345392.3:p.Thr116Ile
	ENST00000696143.2:c.*24C>T
	ENST00000696153.1:c.581C>T	ENST00000696153.1:p.Thr194Ile
	ENST00000713811.1:c.585C>T	ENST00000713811.1:p.Tyr195=
	ENST00000713812.1:c.349C>T	ENST00000713812.1:p.Leu117Phe
	ENST00000713815.1:c.166C>T	ENST00000713815.1:p.Leu56Phe
	ENST00000713982.1:c.375C>T	ENST00000713982.1:p.Tyr125=

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	7
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	COSM18025	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
Pathogenic		other phakomatoses, not elsewhere classified	germline	MGS000077 (TMGS000152)	Kenji Tamura	Kochi University
Pathogenic		Von Hippel-Lindau Type 2	germline	MGS000001 (TMGS000162)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-02-26	no assertion criteria provided	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2019-11-29	criteria provided, single submitter	not provided	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	4	7728151	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	9829912	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	1	26763786	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	25867206	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec...	CIViC Evidence	Detail
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found...	CIViC Evidence	Detail
A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy...	CIViC Evidence	Detail
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and...	CIViC Evidence	Detail
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) AND not provided	ClinVar	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: rs869025660 dbSNP
Genome: hg38
Position: chr3:10,149,793-10,149,793
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): T157I (c.470C>T)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1745

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