Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS p.Gly12Val (p.G12V) ( ENST00000688940.1, ENST00000692768.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000693229.1 )
KRAS p.Gly12Val (p.G12V) ( ENST00000693229.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1 )
Associated Disease
chronic myelogenous leukemia, BCR-ABL1 positive
Source Database
ClinVar
Description
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Chronic myelogenous leukemia, BCR-ABL1 positive
ClinVar Allele ID
27622
ClinVar RefSeq Alternation Syntax
NM_001369786.1:c.35G>T
ClinVar RefSeq Alternation Syntax
NM_001369787.1:c.35G>T
ClinVar RefSeq Alternation Syntax
NM_033360.4:c.35G>T
ClinVar RefSeq Alternation Syntax
NM_004985.5:c.35G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2022-10-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002291496
ClinVar Disease
Chronic myelogenous leukemia, BCR-ABL1 positive
Observed Origin Sample
somatic
Drugs