rs775742013

This variant is located in the ADA2 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

Deficiency of adenosine deaminase 2; Sneddon syndrome;Deficiency of adenosine deaminase 2

About ADA2

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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