rs3212800

This variant is located in the JAK3 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

T-B+ severe combined immunodeficiency due to JAK3 deficiency; not provided

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About JAK3

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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