chr12:25245346:GC>AA Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,280-25,398,281 View the variant detail on this assembly version.
hg38 chr12:25,245,346-25,245,347

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.38_39delinsTT NP_004976.2:p.Gly13Val
NM_033360.3:c.38_39delinsTT NP_203524.1:p.Gly13Val
Ensemble ENST00000256078.10:c.38_39delinsTT ENST00000256078.10:p.Gly13Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM6919675 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Panitumumab,Cetuximab C Predictive Supports Resistance Somatic 2 19223544 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence 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
-
Genome
hg38
Position
chr12:25,245,346-25,245,347
Variant Type
snv
Reference Allele
GC
Alternative Allele
AA
Variant (CIViC) (CIViC Variant)
G13V
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1517
Genome browser