Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS p.Gly12Arg (p.G12R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000692768.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 )
KRAS p.Gly12Arg (p.G12R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
Associated Disease
Malignant tumor of urinary bladder
Source Database
ClinVar
Description
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Malignant tumor of urinary bladder
ClinVar Allele ID
27618
ClinVar RefSeq Alternation Syntax
NM_001369786.1:c.34G>C
ClinVar RefSeq Alternation Syntax
NM_001369787.1:c.34G>C
ClinVar RefSeq Alternation Syntax
NM_033360.4:c.34G>C
ClinVar RefSeq Alternation Syntax
NM_004985.5:c.34G>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
1984-02-17
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000013408
ClinVar Disease
Malignant tumor of urinary bladder
Observed Origin Sample
somatic
Pubmed
6695174
Drugs