Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS p.Gly12Ala (p.G12A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Ala (p.G12A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000692768.1, ENST00000693229.1, ENST00000686969.1, ENST00000688940.1 )
Associated Disease
KRAS-related disorder
Source Database
ClinVar
Description
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) AND KRAS-related disorder
ClinVar Allele ID
54289
ClinVar RefSeq Alternation Syntax
NM_001369786.1:c.35G>C
ClinVar RefSeq Alternation Syntax
NM_001369787.1:c.35G>C
ClinVar RefSeq Alternation Syntax
NM_033360.4:c.35G>C
ClinVar RefSeq Alternation Syntax
NM_004985.5:c.35G>C
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2022-10-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004549454
ClinVar Disease
KRAS-related disorder
Observed Origin Sample
germline
Drugs