chr12:25225625:T>C Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,378,559-25,378,559 View the variant detail on this assembly version.
hg38 chr12:25,225,625-25,225,625

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.439A>G NP_004976.2:p.Lys147Glu
NM_033360.3:c.439A>G NP_203524.1:p.Lys147Glu
Ensemble ENST00000256078.10:c.439A>G ENST00000256078.10:p.Lys147Glu
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 COSM6697735 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-01-15 no assertion criteria provided cardiofaciocutaneous syndrome 2 germline Detail
Pathogenic Likely pathogenic 2023-06-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 cardiofaciocutaneous syndrome 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) AND Cardiofaciocutaneous syndrome 2 ClinVar Detail
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) AND not provided 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
rs387907206 dbSNP
Genome
hg38
Position
chr12:25,225,625-25,225,625
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser