NM_001243133.2(NLRP3):c.2121A>G (p.Pro707=) AND Cryopyrin associated periodic syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001502094.7
Allele description [Variation Report for NM_001243133.2(NLRP3):c.2121A>G (p.Pro707=)]
NM_001243133.2(NLRP3):c.2121A>G (p.Pro707=)
Condition(s)
- Name:
- Cryopyrin associated periodic syndrome (CAPS)
- Identifiers:
- MONDO: MONDO:0016168; MedGen: C2316212
-
MU-MB-20.220, partial [Homo sapiens]
MU-MB-20.220, partial [Homo sapiens]gi|32492938|gb|AAN05093.1|Protein
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Last Updated: Sep 29, 2024