chr12:25245370:T>A 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	chr12:25,398,304-25,398,304 View the variant detail on this assembly version.
hg38	chr12:25,245,370-25,245,370

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.15A>T	NP_004976.2:p.Lys5Asn
	NM_033360.3:c.15A>T	NP_203524.1:p.Lys5Asn
Ensemble	ENST00000256078.10:c.15A>T	ENST00000256078.10:p.Lys5Asn
	ENST00000311936.8:c.15A>T	ENST00000311936.8:p.Lys5Asn
	ENST00000556131.2:c.15A>T	ENST00000556131.2:p.Lys5Asn
	ENST00000557334.6:c.15A>T	ENST00000557334.6:p.Lys5Asn
	ENST00000685328.1:c.15A>T	ENST00000685328.1:p.Lys5Asn
	ENST00000686969.1:c.15A>T	ENST00000686969.1:p.Lys5Asn
	ENST00000688940.1:c.15A>T	ENST00000688940.1:p.Lys5Asn
	ENST00000692768.1:c.-88+5381A>T
	ENST00000693229.1:c.15A>T	ENST00000693229.1:p.Lys5Asn

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	COSM24602	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-05-01	no assertion criteria provided	cardiofaciocutaneous syndrome 2	germline	Detail
Uncertain significance	2014-01-22	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2017-04-03	reviewed by expert panel	Noonan syndrome	germline	Detail
Likely pathogenic	2017-05-05	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) AND Cardiofaciocutaneous syndrome 2	ClinVar	Detail
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) AND not provided	ClinVar	Detail
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) AND Noonan syndrome	ClinVar	Detail
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) AND Inborn genetic diseases	ClinVar	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: rs104894361 dbSNP
Genome: hg38
Position: chr12:25,245,370-25,245,370
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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