NM_001243133.2(NLRP3):c.1904T>C (p.Met635Thr) AND Cryopyrin associated periodic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002302314.3
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1904T>C (p.Met635Thr)]
NM_001243133.2(NLRP3):c.1904T>C (p.Met635Thr)
Condition(s)
- Name:
- Cryopyrin associated periodic syndrome (CAPS)
- Identifiers:
- MONDO: MONDO:0016168; MedGen: C2316212
-
Bos taurus BUD31 homolog (BUD31), mRNA
Bos taurus BUD31 homolog (BUD31), mRNAgi|402691894|ref|NM_001046364.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024