chr12:25227341:T>A Detail (hg38) (KRAS)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr12:25,380,275-25,380,275 View the variant detail on this assembly version.
hg38	chr12:25,227,341-25,227,341

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.183A>T	NP_004976.2:p.Gln61His
	NM_033360.3:c.183A>T	NP_203524.1:p.Gln61His
Ensemble	ENST00000685328.1:c.183A>T	ENST00000685328.1:p.Gln61His
	ENST00000311936.8:c.183A>T	ENST00000311936.8:p.Gln61His
	ENST00000557334.6:c.112-17430A>T
	ENST00000256078.10:c.183A>T	ENST00000256078.10:p.Gln61His
	ENST00000688940.1:c.183A>T	ENST00000688940.1:p.Gln61His
	ENST00000692768.1:c.-16A>T
	ENST00000693229.1:c.112-4A>T

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	COSM1146992	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
Pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Thyroid tumor	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	B-cell chronic lymphocytic leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	hepatocellular carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	acute myeloid leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	pancreatic adenocarcinoma	somatic	Detail
Pathogenic		no assertion criteria provided	Cerebral arteriovenous malformation	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.321	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Neoplasm of the large intestine	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Lung adenocarcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Malignant melanoma of skin	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Thyroid tumor	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Multiple myeloma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Hepatocellular carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Acute myeloid leukemia	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Gastric adenocarcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Pancreatic adenocarcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.183A>T (p.Gln61His) AND Cerebral arteriovenous malformation	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: rs17851045 dbSNP
Genome: hg38
Position: chr12:25,227,341-25,227,341
Variant Type: snv
Reference Allele: T
Alternative Allele: A

Genome browser