Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS p.Gly60Arg (p.G60R) ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1, ENST00000685328.1 )
KRAS p.Gly60Arg (p.G60R) ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
Associated Disease
Inborn genetic diseases
Source Database
ClinVar
Description
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) AND Inborn genetic diseases
ClinVar Allele ID
27625
ClinVar RefSeq Alternation Syntax
NM_001369787.1:c.178G>C
ClinVar RefSeq Alternation Syntax
NM_033360.4:c.178G>C
ClinVar RefSeq Alternation Syntax
NM_001369786.1:c.178G>C
ClinVar RefSeq Alternation Syntax
NM_004985.5:c.178G>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2016-02-19
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001267316
ClinVar Disease
Inborn genetic diseases
Observed Origin Sample
germline
Drugs