chr12:25227343:G>T Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,380,277-25,380,277 View the variant detail on this assembly version.
hg38 chr12:25,227,343-25,227,343

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.181C>A NP_004976.2:p.Gln61Lys
NM_033360.3:c.181C>A NP_203524.1:p.Gln61Lys
Ensemble ENST00000256078.10:c.181C>A ENST00000256078.10:p.Gln61Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM1159597 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-08-28 criteria provided, single submitter Non-small cell lung 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
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
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
<0.001 mycosis fungoides One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 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.181C>A (p.Gln61Lys) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys) AND Thyroid tumor ClinVar Detail
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys) AND Neoplasm of the large intestine ClinVar Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
NA DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... 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
rs121913238 dbSNP
Genome
hg38
Position
chr12:25,227,343-25,227,343
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
Q61K
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/910
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