chr4:55593606:AAGGTT> Detail (hg19) (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	chr4:55,593,606-55,593,611
hg38	chr4:54,727,440-54,727,445

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1672_1677delAAGGTT	NP_000213.1:p.Lys558_Val559del
	NM_001093772.1:c.1663_1668delAAGGTT	NP_001087241.1:p.Lys555_Val556del
Ensemble	ENST00000288135.6:c.1672_1677delAAGGTT	ENST00000288135.6:p.Lys558_Val559del
	ENST00000692783.1:c.1672_1677delAAGGTT	ENST00000692783.1:p.Lys558_Val559del
	ENST00000412167.7:c.1663_1668delAAGGTT	ENST00000412167.7:p.Lys555_Val556del
	ENST00000686011.1:c.1660_1665delAAGGTT	ENST00000686011.1:p.Lys554_Val555del
	ENST00000687109.1:c.1675_1680delAAGGTT	ENST00000687109.1:p.Lys559_Val560del
	ENST00000687246.1:c.1660_1665delAAGGTT	ENST00000687246.1:p.Lys554_Val555del
	ENST00000687295.1:c.1660_1665delAAGGTT	ENST00000687295.1:p.Lys554_Val555del
	ENST00000689832.1:c.1675_1680delAAGGTT	ENST00000689832.1:p.Lys559_Val560del
	ENST00000689994.1:c.1162_1167delAAGGTT	ENST00000689994.1:p.Lys388_Val389del
	ENST00000690543.1:c.1663_1668delAAGGTT	ENST00000690543.1:p.Lys555_Val556del

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

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	COSM1235	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	C	Predictive	Supports	Resistance	Somatic	2	18955458	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Patient 47 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ...	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: chr4:55,593,606-55,593,611
Variant Type: snv
Reference Allele: AAGGTT
Alternative Allele: -
Variant (CIViC) (CIViC Variant): K558_V559del
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/964

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