chr3:10183770:G>T 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	chr3:10,183,770-10,183,770
hg38	chr3:10,142,086-10,142,086 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.239G>T	NP_000542.1:p.Ser80Ile
	NM_198156.2:c.239G>T	NP_937799.1:p.Ser80Ile
Ensemble	ENST00000256474.3:c.239G>T	ENST00000256474.3:p.Ser80Ile
	ENST00000345392.3:c.239G>T	ENST00000345392.3:p.Ser80Ile
	ENST00000696143.2:c.239G>T	ENST00000696143.2:p.Ser80Ile
	ENST00000696153.1:c.239G>T	ENST00000696153.1:p.Ser80Ile
	ENST00000713811.1:c.239G>T	ENST00000713811.1:p.Ser80Ile
	ENST00000713812.1:c.219+20G>T
	ENST00000713815.1:c.36+203G>T
	ENST00000713982.1:c.239G>T	ENST00000713982.1:p.Ser80Ile

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	COSM3364919	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-08-01	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2021-12-08	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau 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	4	7728151	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	11409863	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.416	pheochromocytoma	Almost one fourth of patients with apparently sporadic pheochromocytoma may be c...	UNIPROT	12000816	Detail
0.658	Von Hippel-Lindau syndrome	The group of susceptibility genes for pheochromocytoma that included the proto-o...	UNIPROT	12000816	Detail

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
43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL muta...	CIViC Evidence	Detail
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) AND multiple conditions	ClinVar	Detail
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations...	DisGeNET	Detail
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa...	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: rs5030805 dbSNP
Genome: hg19
Position: chr3:10,183,770-10,183,770
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): S80I (c.239G>T)
Transcript 1 (CIViC Variant): ENST00000
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1757

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