Annotation Detail
Information
- Associated Genes
- PSMB8
- Associated Variants
-
PSMB8 p.Arg229His (p.R229H)
(
ENST00000374881.3,
ENST00000374882.8,
ENST00000395339.7 )
PSMB8 p.Arg229His (p.R229H) ( ENST00000374881.3, ENST00000374882.8, ENST00000395339.7 ) - Associated Disease
- Autoinflammatory syndrome
- Source Database
- ClinVar
- Description
- NM_148919.4(PSMB8):c.686G>A (p.Arg229His) AND Autoinflammatory syndrome
- ClinVar Allele ID
- 306907
- ClinVar RefSeq Alternation Syntax
- NM_004159.5:c.674G>A
- ClinVar RefSeq Alternation Syntax
- NM_148919.4:c.686G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-06-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002263654
- ClinVar Disease
- Autoinflammatory syndrome
- Observed Origin Sample
- germline
Drugs