NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) AND Autoinflammatory syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002262942.4
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)]
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: Oct 13, 2024