Annotation Detail
Information
- Associated Genes
- CDKN1B
- Associated Variants
-
CDKN1B p.Val109Asp (p.V109D)
(
ENST00000228872.9,
ENST00000614874.2,
ENST00000396340.1 )
CDKN1B p.Val109Asp (p.V109D) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 ) - Associated Disease
- CDKN1B-related disorder
- Source Database
- ClinVar
- Description
- NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) AND CDKN1B-related disorder
- ClinVar Allele ID
- 316333
- ClinVar RefSeq Alternation Syntax
- NM_004064.5:c.326T>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-04-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003897706
- ClinVar Disease
- CDKN1B-related disorder
- Observed Origin Sample
- germline
Drugs