NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) AND Familial cold autoinflammatory syndrome 1
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000084225.1
Allele description [Variation Report for NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr)]
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024
SCV000116359