rs773476797

This variant is located in the IRAK4 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication

Immunodeficiency 67

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About IRAK4

This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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