chr4:55593586:CCATGTATGAAGTAC> 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	chr4:55,593,586-55,593,600
hg38	chr4:54,727,420-54,727,434

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1652_1666delCCATGTATGAAGTAC	NP_000213.1:p.Pro551_Val555del
	NM_001093772.1:c.1643_1657delCCATGTATGAAGTAC	NP_001087241.1:p.Pro548_Val552del
Ensemble	ENST00000687109.1:c.1655_1669delCCATGTATGAAGTAC	ENST00000687109.1:p.Pro552_Val556del
	ENST00000687246.1:c.1640_1654delCCATGTATGAAGTAC	ENST00000687246.1:p.Pro547_Val551del
	ENST00000288135.6:c.1652_1666delCCATGTATGAAGTAC	ENST00000288135.6:p.Pro551_Val555del
	ENST00000412167.7:c.1643_1657delCCATGTATGAAGTAC	ENST00000412167.7:p.Pro548_Val552del
	ENST00000686011.1:c.1640_1654delCCATGTATGAAGTAC	ENST00000686011.1:p.Pro547_Val551del
	ENST00000687295.1:c.1640_1654delCCATGTATGAAGTAC	ENST00000687295.1:p.Pro547_Val551del
	ENST00000689832.1:c.1655_1669delCCATGTATGAAGTAC	ENST00000689832.1:p.Pro552_Val556del
	ENST00000689994.1:c.1142_1156delCCATGTATGAAGTAC	ENST00000689994.1:p.Pro381_Val385del
	ENST00000690543.1:c.1643_1657delCCATGTATGAAGTAC	ENST00000690543.1:p.Pro548_Val552del
	ENST00000692783.1:c.1652_1666delCCATGTATGAAGTAC	ENST00000692783.1:p.Pro551_Val555del

Summary

MGeND

Clinical significance	not provided
Variant entry	1
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	COSM6986294	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		jejunum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1998-01-23	no assertion criteria provided	gastrointestinal stromal tumor	somatic	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del) 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: rs587776804 dbSNP
Genome: hg19
Position: chr4:55,593,586-55,593,600
Variant Type: snv
Reference Allele: CCATGTATGAAGTAC
Alternative Allele: -

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