chr12:25227342: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	chr12:25,380,276-25,380,276 View the variant detail on this assembly version.
hg38	chr12:25,227,342-25,227,342

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.182A>T	NP_004976.2:p.Gln61Leu
	NM_033360.3:c.182A>T	NP_203524.1:p.Gln61Leu
Ensemble	ENST00000256078.10:c.182A>T	ENST00000256078.10:p.Gln61Leu
	ENST00000311936.8:c.182A>T	ENST00000311936.8:p.Gln61Leu
	ENST00000557334.6:c.112-17431A>T
	ENST00000685328.1:c.182A>T	ENST00000685328.1:p.Gln61Leu
	ENST00000688940.1:c.182A>T	ENST00000688940.1:p.Gln61Leu
	ENST00000692768.1:c.-17A>T
	ENST00000693229.1:c.112-5A>T

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	COSM1140131	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2011-11-02	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail
Likely pathogenic	2015-09-01	no assertion criteria provided	Medullary thyroid carcinoma	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Thyroid tumor	somatic	Detail
Pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2019-08-31	no assertion criteria provided	multiple myeloma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Chemotherapy,Cetuximab	C	Predictive	Supports	Resistance	Somatic	3	20619739	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Medullary carcinoma of thyroid	NA	CLINVAR		Detail
0.440	Noonan syndrome 3	NA	CLINVAR		Detail
0.149	Carcinogenesis	This system allowed us to rapidly compare the ability of 12 different KRAS mutat...	BeFree	25065594	Detail
0.321	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Two patients participating in a large retrospective trial of cetuximab in metastatic, treatment refr...	CIViC Evidence	Detail
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Medullary thyroid carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Thyroid tumor	ClinVar	Detail
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Neoplasm of the large intestine	ClinVar	Detail
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) AND Multiple myeloma	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1...	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: rs121913240 dbSNP
Genome: hg38
Position: chr12:25,227,342-25,227,342
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Variant (CIViC) (CIViC Variant): Q61L
Transcript 1 (CIViC Variant): ENST00000256078.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/908

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