NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) AND Familial amyloid nephropathy with urticaria AND deafness
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000303538.5
Allele description [Variation Report for NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)]
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
Condition(s)
- Name:
- Familial amyloid nephropathy with urticaria AND deafness (MWS)
- Synonyms:
- Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008633; MedGen: C0268390; Orphanet: 575; OMIM: 191900
Assertion and evidence details
Last Updated: Apr 15, 2024