chr12:25245372:T>C Detail (hg38) (KRAS)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr12:25,398,306-25,398,306 View the variant detail on this assembly version.
hg38	chr12:25,245,372-25,245,372

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.13A>G	NP_004976.2:p.Lys5Glu
	NM_033360.3:c.13A>G	NP_203524.1:p.Lys5Glu
Ensemble	ENST00000256078.10:c.13A>G	ENST00000256078.10:p.Lys5Glu
	ENST00000311936.8:c.13A>G	ENST00000311936.8:p.Lys5Glu
	ENST00000556131.2:c.13A>G	ENST00000556131.2:p.Lys5Glu
	ENST00000557334.6:c.13A>G	ENST00000557334.6:p.Lys5Glu
	ENST00000685328.1:c.13A>G	ENST00000685328.1:p.Lys5Glu
	ENST00000686969.1:c.13A>G	ENST00000686969.1:p.Lys5Glu
	ENST00000688940.1:c.13A>G	ENST00000688940.1:p.Lys5Glu
	ENST00000692768.1:c.-88+5379A>G
	ENST00000693229.1:c.13A>G	ENST00000693229.1:p.Lys5Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM1605975	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-06-11	criteria provided, single submitter	Noonan syndrome 3	germline	Detail
Pathogenic Likely pathogenic	2023-12-26	criteria provided, multiple submitters, no conflicts	RASopathy	germline unknown	Detail
Pathogenic	2022-05-05	criteria provided, single submitter	not provided	germline unknown	Detail
Likely pathogenic	2016-09-09	criteria provided, single submitter	Noonan syndrome	germline	Detail
Uncertain significance	2022-07-29	no assertion criteria provided	Prostate cancer, hereditary, 1	germline	Detail
Pathogenic	2022-09-04	criteria provided, single submitter	KRAS-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) AND Noonan syndrome 3	ClinVar	Detail
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) AND RASopathy	ClinVar	Detail
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) AND not provided	ClinVar	Detail
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) AND Noonan syndrome	ClinVar	Detail
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) AND Prostate cancer, hereditary, 1	ClinVar	Detail
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) AND KRAS-related disorder	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: rs193929331 dbSNP
Genome: hg38
Position: chr12:25,245,372-25,245,372
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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