chr12:25227346: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	chr12:25,380,280-25,380,280 View the variant detail on this assembly version.
hg38	chr12:25,227,346-25,227,346

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.178G>C	NP_004976.2:p.Gly60Arg
	NM_033360.3:c.178G>C	NP_203524.1:p.Gly60Arg
Ensemble	ENST00000688940.1:c.178G>C	ENST00000688940.1:p.Gly60Arg
	ENST00000256078.10:c.178G>C	ENST00000256078.10:p.Gly60Arg
	ENST00000311936.8:c.178G>C	ENST00000311936.8:p.Gly60Arg
	ENST00000557334.6:c.112-17435G>C
	ENST00000692768.1:c.-21G>C
	ENST00000693229.1:c.112-9G>C
	ENST00000685328.1:c.178G>C	ENST00000685328.1:p.Gly60Arg

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	COSM4384681	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		cardiofaciocutaneous syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-23	criteria provided, single submitter	cardiofaciocutaneous syndrome 2	germline unknown	Detail
Pathogenic	2022-07-15	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2017-10-12	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-04-03	reviewed by expert panel	Cardio-facio-cutaneous syndrome	germline	Detail
Pathogenic	2015-09-29	criteria provided, single submitter	Cardio-facio-cutaneous syndrome,Noonan syndrome	germline	Detail
Pathogenic	2015-09-29	criteria provided, single submitter	Cardio-facio-cutaneous syndrome,Noonan syndrome	germline	Detail
Pathogenic	2016-02-19	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-06-13	criteria provided, single submitter	Noonan syndrome 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	cardiofaciocutaneous syndrome 2	NA	CLINVAR		Detail
0.440	Noonan syndrome 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND Cardiofaciocutaneous syndrome 2	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND RASopathy	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND not provided	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND Cardio-facio-cutaneous syndrome	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND multiple conditions	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND multiple conditions	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND Inborn genetic diseases	ClinVar	Detail
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND Noonan syndrome 3	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: rs104894359 dbSNP
Genome: hg38
Position: chr12:25,227,346-25,227,346
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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