rs2124905654

This variant is located in the SLC6A1 gene.

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ClinVar annotation

Likely Pathogenic★★★☆
2 submitters4 publications

Epilepsy with myoclonic atonic seizures

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About SLC6A1

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

View all SLC6A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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