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SLC6A11

Synonyms
GAT-3, GAT3, GAT4
External resources
Summary
The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,267
Likely benign
2,265
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC6A11 gene.

Phenotype class
Patients in 3billion (%)

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