Annotation Detail
Information
- Associated Genes
- CDK4 LOC130008148
- Associated Variants
-
CDK4 p.Asn41Ser (p.N41S)
(
ENST00000312990.10,
ENST00000549606.5,
ENST00000257904.11 )
CDK4 p.Asn41Ser (p.N41S) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 ) - Associated Disease
- familial melanoma
- Source Database
- ClinVar
- Description
- NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Familial melanoma
- ClinVar Allele ID
- 139534
- ClinVar RefSeq Alternation Syntax
- NM_000075.4:c.122A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000122940
- ClinVar Disease
- Familial melanoma
- Observed Origin Sample
- germline
Drugs