rs770689762

This is a variant in the ADA2 gene that changes a glycine to an serine.

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ClinVar annotation

Pathogenic★☆☆☆

4 submitters3 publications

Sneddon syndrome (SNDNS); Vasculitis due to ADA2 deficiency (VAIHS)

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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