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
- melanoma
- Source Database
- DisGeNET
- Description
- We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and strong family history of melanoma.
- Pubmed
- 19238106
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0614167218734491
- Year of publication
- 2009
Drugs