chr4:54727444:TTGTTG> Detail (hg38) (KIT)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr4:55,593,610-55,593,615
hg38	chr4:54,727,444-54,727,449

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1676_1681delTTGTTG	NP_000213.1:p.Val559_Val560del
	NM_001093772.1:c.1667_1672delTTGTTG	NP_001087241.1:p.Val556_Val557del
Ensemble	ENST00000288135.6:c.1676_1681delTTGTTG	ENST00000288135.6:p.Val559_Val560del
	ENST00000412167.7:c.1667_1672delTTGTTG	ENST00000412167.7:p.Val556_Val557del
	ENST00000686011.1:c.1664_1669delTTGTTG	ENST00000686011.1:p.Val555_Val556del
	ENST00000687109.1:c.1679_1684delTTGTTG	ENST00000687109.1:p.Val560_Val561del
	ENST00000687246.1:c.1664_1669delTTGTTG	ENST00000687246.1:p.Val555_Val556del
	ENST00000687295.1:c.1664_1669delTTGTTG	ENST00000687295.1:p.Val555_Val556del
	ENST00000689832.1:c.1679_1684delTTGTTG	ENST00000689832.1:p.Val560_Val561del
	ENST00000689994.1:c.1166_1171delTTGTTG	ENST00000689994.1:p.Val389_Val390del
	ENST00000690543.1:c.1667_1672delTTGTTG	ENST00000690543.1:p.Val556_Val557del
	ENST00000692783.1:c.1676_1681delTTGTTG	ENST00000692783.1:p.Val559_Val560del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

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.1676_1681del (p.Val559_Val560del) 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: rs121913685 dbSNP
Genome: hg38
Position: chr4:54,727,444-54,727,449
Variant Type: snv
Reference Allele: TTGTTG
Alternative Allele: -
Variant (CIViC) (CIViC Variant): V559_V560DEL
Transcript 1 (CIViC Variant): ENST00000288135.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/967

Genome browser