chr4:54727416:AAACCCATGTATGAAGTACAGTGGAAG> 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	chr4:55,593,582-55,593,608
hg38	chr4:54,727,416-54,727,442

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1648_1674delAAACCCATGTATGAAGTACAGTGGAAG	NP_000213.1:p.Lys550_Lys558del
	NM_001093772.1:c.1639_1665delAAACCCATGTATGAAGTACAGTGGAAG	NP_001087241.1:p.Lys547_Lys555del
Ensemble	ENST00000288135.6:c.1648_1674delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000288135.6:p.Lys550_Lys558del
	ENST00000412167.7:c.1639_1665delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000412167.7:p.Lys547_Lys555del
	ENST00000686011.1:c.1636_1662delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000686011.1:p.Lys546_Lys554del
	ENST00000687109.1:c.1651_1677delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000687109.1:p.Lys551_Lys559del
	ENST00000687246.1:c.1636_1662delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000687246.1:p.Lys546_Lys554del
	ENST00000687295.1:c.1636_1662delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000687295.1:p.Lys546_Lys554del
	ENST00000689832.1:c.1651_1677delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000689832.1:p.Lys551_Lys559del
	ENST00000689994.1:c.1138_1164delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000689994.1:p.Lys380_Lys388del
	ENST00000690543.1:c.1639_1665delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000690543.1:p.Lys547_Lys555del
	ENST00000692783.1:c.1648_1674delAAACCCATGTATGAAGTACAGTGGAAG	ENST00000692783.1:p.Lys550_Lys558del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM1163	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-06-16	no assertion criteria provided	gastrointestinal stromal tumor	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
gastrointestinal stromal tumor	Sunitinib	C	Predictive	Supports	Resistance	Somatic	2	18955458	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.760	Gastrointestinal Stromal Tumors	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Patient 3 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant g...	CIViC Evidence	Detail
NM_000222.2(KIT):c.1648_1674del AND Gastrointestinal stromal tumor	ClinVar	Detail
NA	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: rs121913234 dbSNP
Genome: hg38
Position: chr4:54,727,416-54,727,442
Variant Type: snv
Reference Allele: AAACCCATGTATGAAGTACAGTGGAAG
Alternative Allele: -
Variant (CIViC) (CIViC Variant): K550_K558del
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/949

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