rs2470188129

This variant is located in the SLC6A1 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Epilepsy with myoclonic atonic seizures

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…