rs75537567

This variant is located in the GABBR1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not specified; Neurodevelopmental disorder with language delay and variable cognitive abnormalities

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About GABBR1

This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]

View all GABBR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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