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
- multiple endocrine neoplasia type 4
- Source Database
- ClinVar
- Description
- NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) AND Multiple endocrine neoplasia type 4
- ClinVar Allele ID
- 316333
- ClinVar RefSeq Alternation Syntax
- NM_004064.5:c.326T>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000460482
- ClinVar Disease
- Multiple endocrine neoplasia type 4
- Observed Origin Sample
- germline
Drugs