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
- proteasome-associated autoinflammatory syndrome 1
- Source Database
- ClinVar
- Description
- NM_148919.4(PSMB8):c.686G>A (p.Arg229His) AND Proteasome-associated autoinflammatory syndrome 1
- 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
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-11
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000337402
- ClinVar Disease
- Proteasome-associated autoinflammatory syndrome 1
- Observed Origin Sample
- germline
Drugs