chr12:25227342:T>C Detail (hg38) (KRAS)

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

Type Transcript Protein
RefSeq NM_004985.4:c.182A>G NP_004976.2:p.Gln61Arg
NM_033360.3:c.182A>G NP_203524.1:p.Gln61Arg
Ensemble ENST00000256078.10:c.182A>G ENST00000256078.10:p.Gln61Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
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 COSM1158660 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-11-04 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2015-07-14 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Thyroid tumor somatic Detail
Uncertain significance 2019-05-23 criteria provided, single submitter RASopathy germline Detail
Uncertain significance 2021-02-03 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Likely pathogenic no assertion criteria provided lung cancer somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Cetuximab,Irinotecan 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

DescrptionSourceLinks
Two patients participating in a large retrospective trial of cetuximab in metastatic, treatment refr... CIViC Evidence Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Noonan syndrome ClinVar Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Thyroid tumor ClinVar Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) AND Lung cancer 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
C
Variant (CIViC) (CIViC Variant)
Q61R
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/909
Genome browser