rs367899281

This variant is located in the ADAR gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome 6; Inborn genetic diseases

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About ADAR

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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