chr12:25245346:G>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	chr12:25,398,280-25,398,280 View the variant detail on this assembly version.
hg38	chr12:25,245,346-25,245,346

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.39C>T	NP_004976.2:p.Gly13=
	NM_033360.3:c.39C>T	NP_203524.1:p.Gly13=
Ensemble	ENST00000557334.6:c.39C>T	ENST00000557334.6:p.Gly13=
	ENST00000685328.1:c.39C>T	ENST00000685328.1:p.Gly13=
	ENST00000686969.1:c.39C>T	ENST00000686969.1:p.Gly13=
	ENST00000688940.1:c.39C>T	ENST00000688940.1:p.Gly13=
	ENST00000692768.1:c.-88+5405C>T
	ENST00000693229.1:c.39C>T	ENST00000693229.1:p.Gly13=
	ENST00000256078.10:c.39C>T	ENST00000256078.10:p.Gly13=
	ENST00000311936.8:c.39C>T	ENST00000311936.8:p.Gly13=
	ENST00000556131.2:c.39C>T	ENST00000556131.2:p.Gly13=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely 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	COSM1152503	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2011-10-12	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail
Uncertain significance		no assertion criteria provided	not provided	unknown	Detail
Uncertain significance	2022-07-29	no assertion criteria provided	Prostate cancer, hereditary, 1	germline	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.39C>T (p.Gly13=) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.39C>T (p.Gly13=) AND not provided	ClinVar	Detail
NM_004985.5(KRAS):c.39C>T (p.Gly13=) AND Prostate cancer, hereditary, 1	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: rs397517040 dbSNP
Genome: hg38
Position: chr12:25,245,346-25,245,346
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 7994
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 101766
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.82646463455378E-6

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