NM_001243133.2(NLRP3):c.1661G>A (p.Arg554Gln) AND Cryopyrin associated periodic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000704396.6
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1661G>A (p.Arg554Gln)]
NM_001243133.2(NLRP3):c.1661G>A (p.Arg554Gln)
Condition(s)
- Name:
- Cryopyrin associated periodic syndrome (CAPS)
- Identifiers:
- MONDO: MONDO:0016168; MedGen: C2316212
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PREDICTED: tumor necrosis factor ligand superfamily member 6 [Rhinopithecus bieti]gi|1059098222|ref|XP_017722400.1|Protein
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Influenza A virus (A/New York/6907/2009(H1N1)) segment 3, complete sequence
Influenza A virus (A/New York/6907/2009(H1N1)) segment 3, complete sequencegi|295198826|gnl|NIGSP|NIGSP_SGS_00 A|gb|CY061919.1|Nucleotide
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Human ORFeome Gateway entry vector pENTR223-RDX, complete sequence
Human ORFeome Gateway entry vector pENTR223-RDX, complete sequencegi|1147698135|emb|LT742419.1|Nucleotide
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Homo sapiens mRNA for cyclin I variant, clone: HRC09690
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Homo sapiens cDNA FLJ56096 complete cds, highly similar to Epidermis-type lipoxy...
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Last Updated: Feb 20, 2024