Annotation Detail
Information
- Associated Genes
- CEBPA
- Associated Variants
-
CEBPA p.Ser190Pro (p.S190P)
(
ENST00000498907.3 )
CEBPA p.Ser190Pro (p.S190P) ( ENST00000498907.3 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) AND not provided
- ClinVar Allele ID
- 998489
- ClinVar RefSeq Alternation Syntax
- NM_004364.5:c.568T>C
- ClinVar RefSeq Alternation Syntax
- NM_001285829.2:c.211T>C
- ClinVar RefSeq Alternation Syntax
- NM_001287435.2:c.526T>C
- ClinVar RefSeq Alternation Syntax
- NM_001287424.2:c.673T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-11-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003238343
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs