chr3:10191578:C>G Detail (hg19) (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	chr3:10,191,578-10,191,578
hg38	chr3:10,149,894-10,149,894 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.571C>G	NP_000542.1:p.His191Asp
	NM_198156.2:c.448C>G	NP_937799.1:p.His150Asp
Ensemble	ENST00000256474.3:c.571C>G	ENST00000256474.3:p.His191Asp
	ENST00000345392.3:c.448C>G	ENST00000345392.3:p.His150Asp
	ENST00000696143.2:c.*125C>G
	ENST00000696153.1:c.682C>G	ENST00000696153.1:p.His228Asp
	ENST00000713811.1:c.*53C>G
	ENST00000713812.1:c.*96C>G
	ENST00000713815.1:c.*96C>G
	ENST00000713982.1:c.*53C>G

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2011-06-19	no assertion criteria provided	Chuvash polycythemia	germline	Detail
Likely pathogenic	2020-06-21	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Likely pathogenic	2020-06-21	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	ERYTHROCYTOSIS, FAMILIAL, 2	NA	CLINVAR		Detail
0.015	polycythemia	Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (V...	BeFree	24729484	Detail
<0.001	polycythemia	This observation contrasts with a report suggesting that polycythemia in VHL R20...	BeFree	23403324	Detail
0.149	polycythemia	This observation contrasts with a report suggesting that polycythemia in VHL R20...	BeFree	23403324	Detail
0.560	ERYTHROCYTOSIS, FAMILIAL, 2	Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia...	UNIPROT	12844285	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000551.4(VHL):c.571C>G (p.His191Asp) AND Chuvash polycythemia	ClinVar	Detail
NM_000551.4(VHL):c.571C>G (p.His191Asp) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.571C>G (p.His191Asp) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythe...	DisGeNET	Detail
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozyg...	DisGeNET	Detail
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozyg...	DisGeNET	Detail
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.	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: rs28940301 dbSNP
Genome: hg19
Position: chr3:10,191,578-10,191,578
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Variant (CIViC) (CIViC Variant): H191D (c.571C>G)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2425

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