chr12:25398282:C>G Detail (hg19) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,282-25,398,282
hg38 chr12:25,245,348-25,245,348 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.37G>C NP_004976.2:p.Gly13Arg
NM_033360.3:c.37G>C NP_203524.1:p.Gly13Arg
Ensemble ENST00000256078.10:c.37G>C ENST00000256078.10:p.Gly13Arg
Summary

MGeND

Clinical significance not provided
Variant entry 3
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 COSM3384258 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided colorectal cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-10-25 no assertion criteria provided pilocytic astrocytoma somatic Detail
Pathogenic 2011-04-15 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Thyroid tumor somatic Detail
Pathogenic no assertion criteria provided not provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.155 squamous cell carcinoma KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa... BeFree 24040454 Detail
0.309 adenocarcinoma KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squa... BeFree 24040454 Detail
0.241 pilocytic astrocytoma NA CLINVAR Detail
0.149 Carcinogenesis This system allowed us to rapidly compare the ability of 12 different KRAS mutat... BeFree 25065594 Detail
0.240 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER NA CLINVAR Detail
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Pilocytic astrocytoma ClinVar Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND Thyroid tumor ClinVar Detail
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) AND not provided ClinVar Detail
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ... DisGeNET Detail
KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma ... 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
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
rs121913535 dbSNP
Genome
hg19
Position
chr12:25,398,282-25,398,282
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
G13R
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1395
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