rs9983291

This variant is located in the ADARB1 gene.

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

About ADARB1

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

View all ADARB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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