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
- familial melanoma
- Source Database
- ClinVar
- Description
- NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Familial melanoma
- ClinVar Allele ID
- 31968
- ClinVar RefSeq Alternation Syntax
- NM_000075.4:c.71G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001851913
- ClinVar Disease
- Familial melanoma
- Observed Origin Sample
- germline
Drugs