chr4:54733156:C>G 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	chr4:55,599,322-55,599,322 View the variant detail on this assembly version.
hg38	chr4:54,733,156-54,733,156

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.2448C>G	NP_000213.1:p.Asp816Glu
	NM_001093772.1:c.2436C>G	NP_001087241.1:p.Asp812Glu
Ensemble	ENST00000288135.6:c.2448C>G	ENST00000288135.6:p.Asp816Glu
	ENST00000412167.7:c.2436C>G	ENST00000412167.7:p.Asp812Glu
	ENST00000686011.1:c.2433C>G	ENST00000686011.1:p.Asp811Glu
	ENST00000687109.1:c.2451C>G	ENST00000687109.1:p.Asp817Glu
	ENST00000687246.1:c.2349+1158C>G
	ENST00000687295.1:c.2436C>G	ENST00000687295.1:p.Asp812Glu
	ENST00000689832.1:c.2448C>G	ENST00000689832.1:p.Asp816Glu
	ENST00000689994.1:c.1938C>G	ENST00000689994.1:p.Asp646Glu
	ENST00000690543.1:c.2439C>G	ENST00000690543.1:p.Asp813Glu
	ENST00000692783.1:c.2445C>G	ENST00000692783.1:p.Asp815Glu

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	COSM19285	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,Imatinib	D	Predictive	Supports	Resistance	Somatic	4	25239608	Detail
gastrointestinal stromal tumor	Ponatinib	D	Predictive	Does Not Support	Resistance	Somatic	4	25239608	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Several preclinical studies were done in order to test the effects of various tyrosine kinase inhibi...	CIViC Evidence	Detail
A preclinical study was done in order to test the effects of a tyrosine kinase inhibitor (TKI) on th...	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: chr4:54,733,156-54,733,156
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Variant (CIViC) (CIViC Variant): D816E
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1559

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