Annotation Detail
Information
- Associated Genes
- MDM2 LOC126861563
- Associated Variants
-
MDM2 c.14+309T>G
(
ENST00000393412.7,
ENST00000258148.11,
ENST00000258149.11 )
MDM2 c.14+309T>G ( ENST00000258148.11, ENST00000258149.11, ENST00000393412.7 ) - Associated Disease
- Accelerated tumor formation, susceptibility to
- Source Database
- ClinVar
- Description
- NM_002392.6(MDM2):c.14+309T>G AND Accelerated tumor formation, susceptibility to
- ClinVar Allele ID
- 28943
- ClinVar RefSeq Alternation Syntax
- NM_001145339.2:c.14+309T>G
- ClinVar RefSeq Alternation Syntax
- NM_002392.6:c.14+309T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-12-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014918
- ClinVar Disease
- Accelerated tumor formation, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 15550242
- Pubmed
- 16258005
- Pubmed
- 17360557
- Pubmed
- 17003841
- Pubmed
- 19521721
Drugs