chr12:25227341:T>A 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>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
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
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

DescrptionSourceLinks
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