NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) AND Cryopyrin associated periodic syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000645589.12
Allele description
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)
Condition(s)
- Name:
- Cryopyrin associated periodic syndrome (CAPS)
- Identifiers:
- MONDO: MONDO:0016168; MedGen: C2316212
Assertion and evidence details
Last Updated: Sep 16, 2024