Annotation Detail
Information
- Associated Genes
- CPB2 CPB2-AS1
- Associated Variants
-
CPB2 p.Ala169Thr (p.A169T)
(
ENST00000674625.1,
ENST00000181383.10,
ENST00000439329.5 )
CPB2 p.Ala169Thr (p.A169T) ( ENST00000181383.10, ENST00000439329.5, ENST00000674625.1 ) - Associated Disease
- CPB2-related disorder
- Source Database
- ClinVar
- Description
- NM_001872.5(CPB2):c.505G>A (p.Ala169Thr) AND CPB2-related disorder
- ClinVar Allele ID
- 3193470
- ClinVar RefSeq Alternation Syntax
- NM_001872.5:c.505G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278541.2:c.505G>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/RCV003974638
- ClinVar Disease
- CPB2-related disorder
- Observed Origin Sample
- germline
Drugs