Annotation Detail
Information
- Associated Genes
- MDM2
- Associated Variants
-
MDM2 p.Glu360= (p.E360=)
(
ENST00000393412.7,
ENST00000393413.7,
ENST00000360430.6,
ENST00000517852.5,
ENST00000258148.11,
ENST00000258149.11,
ENST00000544561.6,
ENST00000299252.8,
ENST00000350057.9,
ENST00000539479.6,
ENST00000545204.2,
ENST00000393410.5,
ENST00000393416.7 )
MDM2 p.Glu360= (p.E360=) ( ENST00000258148.11, ENST00000258149.11, ENST00000299252.8, ENST00000350057.9, ENST00000360430.6, ENST00000393410.5, ENST00000393412.7, ENST00000393413.7, ENST00000393416.7, ENST00000517852.5, ENST00000539479.6, ENST00000544561.6, ENST00000545204.2 ) - Associated Disease
- Accelerated tumor formation, susceptibility to
- Source Database
- ClinVar
- Description
- NM_002392.6(MDM2):c.1080A>G (p.Glu360=) AND Accelerated tumor formation, susceptibility to
- ClinVar Allele ID
- 1157037
- ClinVar RefSeq Alternation Syntax
- NM_001145337.3:c.921A>G
- ClinVar RefSeq Alternation Syntax
- NM_002392.6:c.1080A>G
- ClinVar RefSeq Alternation Syntax
- NM_001367990.1:c.1062A>G
- ClinVar RefSeq Alternation Syntax
- NM_001278462.2:c.552A>G
- ClinVar RefSeq Alternation Syntax
- NM_001145339.2:c.915A>G
- ClinVar RefSeq Alternation Syntax
- NM_001145340.3:c.474A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001517224
- ClinVar Disease
- Accelerated tumor formation, susceptibility to
- Observed Origin Sample
- germline
Drugs