chr12:25398282:C>T 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	chr12:25,398,282-25,398,282
hg38	chr12:25,245,348-25,245,348 View the variant detail on this assembly version.

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.37G>A	NP_004976.2:p.Gly13Ser
	NM_033360.3:c.37G>A	NP_203524.1:p.Gly13Ser
Ensemble	ENST00000556131.2:c.37G>A	ENST00000556131.2:p.Gly13Ser
	ENST00000557334.6:c.37G>A	ENST00000557334.6:p.Gly13Ser
	ENST00000256078.10:c.37G>A	ENST00000256078.10:p.Gly13Ser
	ENST00000311936.8:c.37G>A	ENST00000311936.8:p.Gly13Ser
	ENST00000688940.1:c.37G>A	ENST00000688940.1:p.Gly13Ser
	ENST00000692768.1:c.-88+5403G>A
	ENST00000693229.1:c.37G>A	ENST00000693229.1:p.Gly13Ser
	ENST00000685328.1:c.37G>A	ENST00000685328.1:p.Gly13Ser
	ENST00000686969.1:c.37G>A	ENST00000686969.1:p.Gly13Ser

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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	COSM528	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		extrahepatic bile duct	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		head of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Thyroid tumor	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.155	squamous cell carcinoma	KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa...	BeFree	24040454	Detail
0.309	adenocarcinoma	KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa...	BeFree	24040454	Detail
0.241	pilocytic astrocytoma	NA	CLINVAR		Detail
0.149	Carcinogenesis	This system allowed us to rapidly compare the ability of 12 different KRAS mutat...	BeFree	25065594	Detail
0.240	RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER	NA	CLINVAR		Detail
0.321	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser) AND Neoplasm of the large intestine	ClinVar	Detail
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser) AND Thyroid tumor	ClinVar	Detail
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ...	DisGeNET	Detail
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ...	DisGeNET	Detail
NA	DisGeNET	Detail
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1...	DisGeNET	Detail
NA	DisGeNET	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: rs121913535 dbSNP
Genome: hg19
Position: chr12:25,398,282-25,398,282
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): G13S
Transcript 1 (CIViC Variant): ENST00000256078.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1396

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