rs2147218280
This variant is located in the ARHGEF9 gene.
▶ClinVar annotation
Developmental and epileptic encephalopathy, 8; not provided
View on ClinVar →About ARHGEF9
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
View all ARHGEF9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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