NM_001243133.2(NLRP3):c.1175C>A (p.Ala392Glu) AND Cryopyrin associated periodic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000645577.7
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1175C>A (p.Ala392Glu)]
NM_001243133.2(NLRP3):c.1175C>A (p.Ala392Glu)
Condition(s)
- Name:
- Cryopyrin associated periodic syndrome (CAPS)
- Identifiers:
- MONDO: MONDO:0016168; MedGen: C2316212
-
LOC108321952 [Vigna angularis]
LOC108321952 [Vigna angularis]Gene ID:108321952Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024