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

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

Type Transcript Protein
RefSeq NM_004985.4:c.183A>C NP_004976.2:p.Gln61His
NM_033360.3:c.183A>C NP_203524.1:p.Gln61His
Ensemble ENST00000256078.10:c.183A>C ENST00000256078.10:p.Gln61His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM1135364 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/05/18 lung adenocarcinoma (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
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
Likely pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic no assertion criteria provided juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2022-01-01 criteria provided, single submitter not provided germline Detail
Uncertain significance 2020-11-10 criteria provided, single submitter germline Detail
Uncertain significance 2022-10-10 criteria provided, single submitter RASopathy germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Chemotherapy,Cetuximab C Predictive Supports Resistance Somatic 3 20619739 Detail
colorectal cancer Cetuximab C Predictive Supports Resistance Somatic 22722830 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Six patients participating in a large retrospective study of cetuximab in metastatic, treatment refr... CIViC Evidence Detail
In a colorectal cancer patient with a KRAS Q61H mutation, KRAS Q61H was reported to be refractory to... CIViC Evidence Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND Acute myeloid leukemia ClinVar Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND Cardiovascular phenotype ClinVar Detail
NM_004985.5(KRAS):c.183A>C (p.Gln61His) AND RASopathy 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
G
Variant (CIViC) (CIViC Variant)
Q61H
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/907
Genome browser