chr12:25245348:C>G Detail (hg38) (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 View the variant detail on this assembly version.
hg38	chr12:25,245,348-25,245,348

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.37G>C	NP_004976.2:p.Gly13Arg
	NM_033360.3:c.37G>C	NP_203524.1:p.Gly13Arg
Ensemble	ENST00000256078.10:c.37G>C	ENST00000256078.10:p.Gly13Arg
	ENST00000311936.8:c.37G>C	ENST00000311936.8:p.Gly13Arg
	ENST00000556131.2:c.37G>C	ENST00000556131.2:p.Gly13Arg
	ENST00000557334.6:c.37G>C	ENST00000557334.6:p.Gly13Arg
	ENST00000685328.1:c.37G>C	ENST00000685328.1:p.Gly13Arg
	ENST00000686969.1:c.37G>C	ENST00000686969.1:p.Gly13Arg
	ENST00000688940.1:c.37G>C	ENST00000688940.1:p.Gly13Arg
	ENST00000692768.1:c.-88+5403G>C
	ENST00000693229.1:c.37G>C	ENST00000693229.1:p.Gly13Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM3384258	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-10-25	no assertion criteria provided	pilocytic astrocytoma	somatic	Detail
Pathogenic	2011-04-15	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail
Pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Thyroid tumor	somatic	Detail
Pathogenic		no assertion criteria provided	not provided	unknown	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_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Pilocytic astrocytoma	ClinVar	Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Neoplasm of the large intestine	ClinVar	Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Thyroid tumor	ClinVar	Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND not provided	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: hg38
Position: chr12:25,245,348-25,245,348
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Variant (CIViC) (CIViC Variant): G13R
Transcript 1 (CIViC Variant): ENST00000256078.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1395

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