chr12:25398211:T>C 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	chr12:25,398,211-25,398,211
hg38	chr12:25,245,277-25,245,277 View the variant detail on this assembly version.

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.108A>G	NP_004976.2:p.Ile36Met
	NM_033360.3:c.108A>G	NP_203524.1:p.Ile36Met
Ensemble	ENST00000256078.10:c.108A>G	ENST00000256078.10:p.Ile36Met
	ENST00000686969.1:c.108A>G	ENST00000686969.1:p.Ile36Met
	ENST00000311936.8:c.108A>G	ENST00000311936.8:p.Ile36Met
	ENST00000693229.1:c.108A>G	ENST00000693229.1:p.Ile36Met
	ENST00000692768.1:c.-88+5474A>G
	ENST00000685328.1:c.108A>G	ENST00000685328.1:p.Ile36Met
	ENST00000556131.2:c.108A>G	ENST00000556131.2:p.Ile36Met
	ENST00000557334.6:c.108A>G	ENST00000557334.6:p.Ile36Met
	ENST00000688940.1:c.108A>G	ENST00000688940.1:p.Ile36Met

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	COSM1318027	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2022-10-01	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Likely pathogenic	2022-12-20	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2018-02-15	criteria provided, single submitter	Noonan syndrome,Cardio-facio-cutaneous syndrome	germline	Detail
Likely pathogenic	2018-02-15	criteria provided, single submitter	Noonan syndrome,Cardio-facio-cutaneous syndrome	germline	Detail
Pathogenic		criteria provided, single submitter	cardiofaciocutaneous syndrome 1	unknown	Detail
Pathogenic	2017-02-01	criteria provided, single submitter		germline	Detail
Pathogenic	2023-11-04	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.108A>G (p.Ile36Met) AND RASopathy	ClinVar	Detail
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) AND not provided	ClinVar	Detail
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) AND multiple conditions	ClinVar	Detail
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) AND multiple conditions	ClinVar	Detail
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) AND Cardiofaciocutaneous syndrome 1	ClinVar	Detail
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) AND Cardiovascular phenotype	ClinVar	Detail
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) 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: rs727503109 dbSNP
Genome: hg19
Position: chr12:25,398,211-25,398,211
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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