Annotation Detail

Information
Associated Genes
CDK4
Associated Variants
CDK4 p.Arg24His (p.R24H) ( ENST00000312990.10, ENST00000549606.5, ENST00000257904.11 )
CDK4 p.Arg24His (p.R24H) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 )
Associated Disease
lung adenocarcinoma
Source Database
ClinVar
Description
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Lung adenocarcinoma
ClinVar Allele ID
31968
ClinVar RefSeq Alternation Syntax
NM_000075.4:c.71G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000434181
ClinVar Disease
Lung adenocarcinoma
Observed Origin Sample
somatic
Drugs