rs1187844488

This variant is located in the GABRA2 gene.

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ClinVar annotation

Conflicting Classifications

2 submitters2 publications

GABRA2-related disorder; not provided

About GABRA2

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

View all GABRA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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