NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=) AND Autoinflammatory syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002263685.3
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)]
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: Sep 29, 2024