chr12:25380277:G>C Detail (hg19) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,380,277-25,380,277
hg38 chr12:25,227,343-25,227,343 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.181C>G NP_004976.2:p.Gln61Glu
NM_033360.3:c.181C>G NP_203524.1:p.Gln61Glu
Ensemble ENST00000557334.6:c.112-17432C>G
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 COSM550 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm of the large intestine somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
<0.001 mycosis fungoides One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033360.4(KRAS):c.181C>G (p.Gln61Glu) AND Neoplasm of the large intestine ClinVar Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
NA DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... 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
rs121913238 dbSNP
Genome
hg19
Position
chr12:25,380,277-25,380,277
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
Q61E
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1104
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