rs2148927438

This variant is located in the NLRC4 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters2 publications

Autoinflammatory syndrome; Periodic fever-infantile enterocolitis-autoinflammatory syndrome;Familial cold autoinflammatory syndrome 4

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About NLRC4

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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