NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys) AND Familial cold autoinflammatory syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003142461.1
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)]
NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)
Condition(s)
-
Mus musculus calponin 3, acidic, mRNA (cDNA clone IMAGE:3603366), partial cds
Mus musculus calponin 3, acidic, mRNA (cDNA clone IMAGE:3603366), partial cdsgi|13543243|gb|BC005788.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024