chrX:47569941:T>A Detail (hg38) (ARAF)

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

Genome

Assembly	Position
hg19	chrX:47,429,340-47,429,340 View the variant detail on this assembly version.
hg38	chrX:47,569,941-47,569,941

HGVS

ARAF

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000377045.9:c.1468T>A	ENST00000377045.9:p.Ser490Thr

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

ARAF

Type	Database	ID	Link
Gene	MIM	311010	OMIM
	HGNC	646	HGNC
	Ensembl	ENSG00000078061	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

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Irinotecan,Cetuximab,Vemurafenib	C	Predictive	Supports	Resistance	Somatic	1	27729313	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Phase 1b study of vemurafenib, cetuximab and irinotecan in 19 BRAF V600E mutant colorectal cancer pa...	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: hg38
Position: chrX:47,569,941-47,569,941
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Variant (CIViC) (CIViC Variant): S490T
Transcript 1 (CIViC Variant): ENST00000377045.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/825

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