Annotation Detail
Information
- Associated Genes
- CDK4
- Associated Variants
-
CDK4 p.Arg24Cys (p.R24C)
(
ENST00000549606.5,
ENST00000312990.10,
ENST00000257904.11 )
CDK4 p.Arg24Cys (p.R24C) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 ) - Associated Disease
- familial melanoma
- Source Database
- ClinVar
- Description
- NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Familial melanoma
- ClinVar Allele ID
- 31967
- ClinVar RefSeq Alternation Syntax
- NM_000075.4:c.70C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-09-06
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000168188
- ClinVar Disease
- Familial melanoma
- Observed Origin Sample
- germline
Drugs