chr4:54727442:G>TCCT Detail (hg38) (KIT)

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

Genome

Assembly	Position
hg19	chr4:55,593,608-55,593,608 View the variant detail on this assembly version.
hg38	chr4:54,727,442-54,727,442

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1674delinsTCCT	NP_000213.1:p.Lys558delinsAsnPro
	NM_001093772.1:c.1665delinsTCCT	NP_001087241.1:p.Lys555delinsAsnPro
Ensemble	ENST00000288135.6:c.1674delinsTCCT	ENST00000288135.6:p.Lys558delinsAsnPro
	ENST00000412167.7:c.1665delinsTCCT	ENST00000412167.7:p.Lys555delinsAsnPro
	ENST00000686011.1:c.1662delinsTCCT	ENST00000686011.1:p.Lys554delinsAsnPro
	ENST00000687109.1:c.1677delinsTCCT	ENST00000687109.1:p.Lys559delinsAsnPro
	ENST00000687246.1:c.1662delinsTCCT	ENST00000687246.1:p.Lys554delinsAsnPro
	ENST00000687295.1:c.1662delinsTCCT	ENST00000687295.1:p.Lys554delinsAsnPro
	ENST00000689832.1:c.1677delinsTCCT	ENST00000689832.1:p.Lys559delinsAsnPro
	ENST00000689994.1:c.1164delinsTCCT	ENST00000689994.1:p.Lys388delinsAsnPro
	ENST00000690543.1:c.1665delinsTCCT	ENST00000690543.1:p.Lys555delinsAsnPro
	ENST00000692783.1:c.1674delinsTCCT	ENST00000692783.1:p.Lys558delinsAsnPro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

KIT

Type	Database	ID	Link
Gene	MIM	164920	OMIM
	HGNC	6342	HGNC
	Ensembl	ENSG00000157404	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1245	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Sunitinib,Regorafenib,Ponatinib,Imatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	25239608	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT K558NP primary activating mu...	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: hg38
Position: chr4:54,727,442-54,727,442
Variant Type: snv
Reference Allele: G
Alternative Allele: TCCT
Variant (CIViC) (CIViC Variant): K558NP
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1549

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