chr12:25380279:C>A 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	chr12:25,380,279-25,380,279
hg38	chr12:25,227,345-25,227,345 View the variant detail on this assembly version.

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.179G>T	NP_004976.2:p.Gly60Val
	NM_033360.3:c.179G>T	NP_203524.1:p.Gly60Val
Ensemble	ENST00000256078.10:c.179G>T	ENST00000256078.10:p.Gly60Val
	ENST00000311936.8:c.179G>T	ENST00000311936.8:p.Gly60Val
	ENST00000557334.6:c.112-17434G>T
	ENST00000685328.1:c.179G>T	ENST00000685328.1:p.Gly60Val
	ENST00000688940.1:c.179G>T	ENST00000688940.1:p.Gly60Val
	ENST00000692768.1:c.-20G>T
	ENST00000693229.1:c.112-8G>T

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM5879374	COSMIC
	MONDO

Disease area statistics

MGeND

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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2013-07-19	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
Likely pathogenic	2013-07-19	no assertion criteria provided	Cardio-facio-cutaneous syndrome,Noonan syndrome	germline	Detail
Likely pathogenic	2013-07-19	no assertion criteria provided	Cardio-facio-cutaneous syndrome,Noonan syndrome	germline	Detail
Pathogenic Likely pathogenic	2021-10-26	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-07-26	criteria provided, single submitter	RASopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Noonan syndrome 3	NA	CLINVAR		Detail
0.321	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND multiple conditions	ClinVar	Detail
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND multiple conditions	ClinVar	Detail
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND not provided	ClinVar	Detail
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) AND RASopathy	ClinVar	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: rs727503108 dbSNP
Genome: hg19
Position: chr12:25,380,279-25,380,279
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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