Annotation Detail
Information
- Associated Genes
- PSMB9
- Associated Variants
-
PSMB9 p.Val32Ile (p.V32I)
(
ENST00000374859.3,
ENST00000395330.5 )
PSMB9 p.Val32Ile (p.V32I) ( ENST00000374859.3, ENST00000395330.5 ) - Associated Disease
- PSMB9-related disorder
- Source Database
- ClinVar
- Description
- NM_002800.5(PSMB9):c.94G>A (p.Val32Ile) AND PSMB9-related disorder
- ClinVar Allele ID
- 3199883
- ClinVar RefSeq Alternation Syntax
- NM_002800.5:c.94G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-07-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003973917
- ClinVar Disease
- PSMB9-related disorder
- Observed Origin Sample
- germline
Drugs