rs1173941971
This variant is located in the TNFAIP3 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeCase reportN=4Nancy Braverman et al.(2002)· Human Mutation
Retrospective case series of 4 children with A20 haploinsufficiency (HA20) caused by heterozygous TNFAIP3 mutations or deletion. Patients presented with autoinflammatory disease features including inflammatory bowel disease, elevated inflammatory markers, and lymphadenopathy. Identified 3 novel TNFAIP3 mutations (c.866delA p.His289Profs*3, c.133C>T p.Arg45Ter, c.1243_1247del p.Asn416Thrfs*11) and 1 complete TNFAIP3 deletion (6q23.3), all pathogenic per ACMG criteria. Patients responded to combined therapy with exclusive enteral nutrition and thalidomide.
About TNFAIP3
This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
View all TNFAIP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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