NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=) AND Familial cold autoinflammatory syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102129.11
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=)]
NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=)
Condition(s)
Assertion and evidence details
Last Updated: Nov 3, 2024