Annotation Detail
Information
- Associated Genes
- UGT8
- Associated Variants
-
CDK4 p.Arg24His (p.R24H)
(
ENST00000312990.10,
ENST00000549606.5,
ENST00000257904.11 )
CRAT p.Arg27His (p.R27H) ( ENST00000318080.7, ENST00000393384.3, ENST00000455396.2, ENST00000680117.1, ENST00000681325.1, ENST00000681627.1, ENST00000681725.1 )
CDK4 p.Arg24His (p.R24H) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 )
CRAT p.Arg27His (p.R27H) ( ENST00000318080.7, ENST00000393384.3, ENST00000455396.2, ENST00000680117.1, ENST00000681325.1, ENST00000681627.1, ENST00000681725.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred.
- Pubmed
- 15880589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2005
Drugs