chr4:54727298:A>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	chr4:55,593,464-55,593,464 View the variant detail on this assembly version.
hg38	chr4:54,727,298-54,727,298

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1621A>G	NP_000213.1:p.Met541Val
	NM_001093772.1:c.1612A>G	NP_001087241.1:p.Met538Val
Ensemble	ENST00000288135.6:c.1621A>G	ENST00000288135.6:p.Met541Val
	ENST00000412167.7:c.1612A>G	ENST00000412167.7:p.Met538Val
	ENST00000686011.1:c.1609A>G	ENST00000686011.1:p.Met537Val
	ENST00000687109.1:c.1624A>G	ENST00000687109.1:p.Met542Val
	ENST00000687246.1:c.1609A>G	ENST00000687246.1:p.Met537Val
	ENST00000687295.1:c.1609A>G	ENST00000687295.1:p.Met537Val
	ENST00000689832.1:c.1624A>G	ENST00000689832.1:p.Met542Val
	ENST00000689994.1:c.1111A>G	ENST00000689994.1:p.Met371Val
	ENST00000690543.1:c.1612A>G	ENST00000690543.1:p.Met538Val
	ENST00000692783.1:c.1621A>G	ENST00000692783.1:p.Met541Val

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.019	urticaria pigmentosa	Association of paediatric mastocytosis with a polymorphism resulting in an amino...	BeFree	18795925	Detail
0.118	mastocytosis	Association of paediatric mastocytosis with a polymorphism resulting in an amino...	BeFree	18795925	Detail
0.001	chronic eosinophilic leukemia	We investigated the presence of KIT(M541L) in five males with chronic eosinophil...	BeFree	25015329	Detail
0.118	mastocytosis	The M541L KIT substitution (KIT(M541L)) has been described to be associated with...	BeFree	25015329	Detail
<0.001	Fibromatosis, Aggressive	Impact of KIT exon 10 M541L allelic variant on the response to imatinib in aggre...	BeFree	25174682	Detail
0.019	urticaria pigmentosa	The M541L KIT substitution (KIT(M541L)) has been described to be associated with...	BeFree	25015329	Detail
0.007	Merkel cell carcinoma	Identification of the M541L sequence variation of the transmembrane KIT domain i...	BeFree	21498700	Detail

Annotation

Annotations

Descrption	Source	Links
Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (...	DisGeNET	Detail
Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (...	DisGeNET	Detail
We investigated the presence of KIT(M541L) in five males with chronic eosinophilic leukemia, not oth...	DisGeNET	Detail
The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocyto...	DisGeNET	Detail
Impact of KIT exon 10 M541L allelic variant on the response to imatinib in aggressive fibromatosis: ...	DisGeNET	Detail
The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocyto...	DisGeNET	Detail
Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcin...	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: rs3822214 dbSNP
Genome: hg38
Position: chr4:54,727,298-54,727,298
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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