chr4:55968180:T>A Detail (hg19) (KDR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr4:55,968,180-55,968,180
hg38	chr4:55,102,013-55,102,013 View the variant detail on this assembly version.

HGVS

KDR

Type	Transcript	Protein
RefSeq	NM_002253.2:c.2150A>T	NP_002244.1:p.Asp717Val
Ensemble	ENST00000263923.5:c.2150A>T	ENST00000263923.5:p.Asp717Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

KDR

Type	Database	ID	Link
Gene	MIM	191306	OMIM
	HGNC	6307	HGNC
	Ensembl	ENSG00000128052	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

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
angiosarcoma	Sunitinib,Sorafenib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	19723655	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
COS-7 cells were transiently transfected with expression constructs encoding cDNAs for wild-type or ...	CIViC Evidence	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: -
Genome: hg19
Position: chr4:55,968,180-55,968,180
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Variant (CIViC) (CIViC Variant): D717V
Transcript 1 (CIViC Variant): ENST00000263923.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/468

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