NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=) AND Cryopyrin associated periodic syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001504602.6
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:
- Cryopyrin associated periodic syndrome (CAPS)
- Identifiers:
- MONDO: MONDO:0016168; MedGen: C2316212
Assertion and evidence details
Last Updated: Feb 20, 2024