Annotation Detail
Information
- Associated Genes
- CCND1
- Associated Variants
-
CCND1 p.Pro241= (p.P241=)
(
ENST00000536559.1,
ENST00000227507.3 )
CCND1 p.Pro241= (p.P241=) ( ENST00000227507.3, ENST00000536559.1 ) - Associated Disease
- CCND1-related disorder
- Source Database
- ClinVar
- Description
- NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND CCND1-related disorder
- ClinVar Allele ID
- 28794
- ClinVar RefSeq Alternation Syntax
- NM_053056.3:c.723G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974823
- ClinVar Disease
- CCND1-related disorder
- Observed Origin Sample
- germline
Drugs