rs8124728

This variant is located in the SAMHD1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Aicardi-Goutieres syndrome 5; Chilblain lupus 2; not provided

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About SAMHD1

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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