NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) AND Proteosome-associated autoinflammatory syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003595858.1
Allele description [Variation Report for NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)]
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024