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
- Melanoma, cutaneous malignant, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) AND Melanoma, cutaneous malignant, susceptibility to, 3
- ClinVar Allele ID
- 31967
- ClinVar RefSeq Alternation Syntax
- NM_000075.4:c.70C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-05-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018436
- ClinVar Disease
- Melanoma, cutaneous malignant, susceptibility to, 3
- Observed Origin Sample
- unknown
- Pubmed
- 8528263
- Pubmed
- 7652577
Drugs