Annotation Detail
Information
- Associated Genes
- CDKN1B
- Associated Variants
-
CDKN1B c.-79T>C
(
ENST00000228872.9,
ENST00000614874.2 )
CDKN1B c.-79T>C ( ENST00000228872.9, ENST00000614874.2 ) - Associated Disease
- multiple endocrine neoplasia type 4
- Source Database
- ClinVar
- Description
- NM_004064.5(CDKN1B):c.-79T>C AND Multiple endocrine neoplasia type 4
- ClinVar Allele ID
- 331119
- ClinVar RefSeq Alternation Syntax
- NM_004064.5:c.-79T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000999957
- ClinVar Disease
- Multiple endocrine neoplasia type 4
- Observed Origin Sample
- germline
Drugs