chr12:25398280:GC>AA Detail (hg19) (KRAS)

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

Genome

Assembly	Position
hg19	chr12:25,398,280-25,398,281
hg38	chr12:25,245,346-25,245,347 View the variant detail on this assembly version.

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.38_39delinsTT	NP_004976.2:p.Gly13Val
	NM_033360.3:c.38_39delinsTT	NP_203524.1:p.Gly13Val
Ensemble	ENST00000256078.10:c.38_39delinsTT	ENST00000256078.10:p.Gly13Val
	ENST00000311936.8:c.38_39delinsTT	ENST00000311936.8:p.Gly13Val
	ENST00000556131.2:c.38_39delinsTT	ENST00000556131.2:p.Gly13Val
	ENST00000557334.6:c.38_39delinsTT	ENST00000557334.6:p.Gly13Val
	ENST00000685328.1:c.38_39delinsTT	ENST00000685328.1:p.Gly13Val
	ENST00000686969.1:c.38_39delinsTT	ENST00000686969.1:p.Gly13Val
	ENST00000688940.1:c.38_39delinsTT	ENST00000688940.1:p.Gly13Val
	ENST00000692768.1:c.-88+5405_-88+5404delinsTT
	ENST00000693229.1:c.38_39delinsTT	ENST00000693229.1:p.Gly13Val

Summary

MGeND

Clinical significance	not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

KRAS

Type	Database	ID	Link
Gene	MIM	190070	OMIM
	HGNC	6407	HGNC
	Ensembl	ENSG00000133703	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6919675	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Panitumumab,Cetuximab	C	Predictive	Supports	Resistance	Somatic	2	19223544	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider...	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: hg19
Position: chr12:25,398,280-25,398,281
Variant Type: snv
Reference Allele: GC
Alternative Allele: AA
Variant (CIViC) (CIViC Variant): G13V
Transcript 1 (CIViC Variant): ENST00000256078.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1517

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