chr12:25398280:G>T Detail (hg19) (KRAS)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.39C>A NP_004976.2:p.Gly13=
NM_033360.3:c.39C>A NP_203524.1:p.Gly13=
Ensemble ENST00000256078.10:c.39C>A ENST00000256078.10:p.Gly13=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM537 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-04-22 criteria provided, single submitter Non-small cell lung carcinoma 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.39C>A (p.Gly13=) AND Non-small cell lung carcinoma 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
rs397517040 dbSNP
Genome
hg19
Position
chr12:25,398,280-25,398,280
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser