SLC6A1 Chromosome 3
Solute carrier family 6 member 1
Upload your DNA to see your personal genotypes for variants in SLC6A1.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000157103
Associated Conditions (16)
Inborn genetic diseases
Epilepsy with myoclonic atonic seizures
SLC6A1-related disorder
Intellectual disability
See cases
Hepatocellular carcinoma
Seizure
SLC6A1-related neurodevelopmental condition
Self-limited epilepsy with centrotemporal spikes
Global developmental delay
Neurodevelopmental delay
Marfanoid habitus and intellectual disability
SLC6A1-related neurodevelopmental disorder
Autosomal dominant epilepsy
Neurodevelopmental disorder
Autism spectrum disorder
Key Variants
RS1017069383
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
Health Risk
RS1057523845
Conflicting classifications of pathogenicity
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
Health Risk
RS1057524158
Conflicting classifications of pathogenicity
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
Health Risk
RS1258130231
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
Health Risk
RS1264567694
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
Health Risk
RS1270312556
Conflicting classifications of pathogenicity
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
Health Risk
RS1297168513
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
Health Risk
RS1334690406
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
Health Risk
RS1391625316
Conflicting classifications of pathogenicity
Epilepsy with myoclonic atonic seizures, Inborn genetic diseases, SLC6A1-related disorder
Health Risk
RS1396036517
Conflicting classifications of pathogenicity
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
Health Risk
RS1403165900
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
Health Risk
RS142007193
Conflicting classifications of pathogenicity
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
Health Risk
All Variants (198)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1698023649 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1698067665 | Health Risk | Pathogenic | SLC6A1-related disorder, Epilepsy with myoclonic atonic seizures, SLC6A1-related disorder |
| RS1698067880 | Health Risk | Pathogenic | Intellectual disability, Epilepsy with myoclonic atonic seizures, Intellectual disability |
| RS2124905063 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124907082 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124908675 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124908824 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124912717 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124917812 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124924932 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124926277 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124931871 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124932157 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124932194 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124936720 | Health Risk | Pathogenic | — |
| RS2124942597 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470191807 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470191935 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470192158 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470196296 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470203267 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470203450 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2470203986 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470210792 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470224623 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470236742 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2470237214 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470239589 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470263294 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470263512 | Health Risk | Pathogenic | — |
| RS2470263679 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2470263712 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS745529755 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Inborn genetic diseases, Epilepsy with myoclonic atonic seizures |
| RS760836450 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS794726859 | Health Risk | Pathogenic | Autosomal dominant epilepsy, Epilepsy with myoclonic atonic seizures, Autosomal dominant epilepsy |
| RS876657401 | Health Risk | Pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1085307804 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1131691302 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Epilepsy with myoclonic atonic seizures, Neurodevelopmental delay |
| RS1553687863 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS1553689580 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Inborn genetic diseases |
| RS1553689696 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Inborn genetic diseases, Epilepsy with myoclonic atonic seizures |
| RS1559622516 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy with myoclonic atonic seizures, SLC6A1-related disorder, Epilepsy with myoclonic atonic seizures |
| RS1574907198 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Epilepsy with myoclonic atonic seizures, See cases |
| RS1697264007 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, SLC6A1-related disorder, Intellectual disability |
| RS1697775287 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2124924957 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS794726860 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Epilepsy with myoclonic atonic seizures, Autism spectrum disorder |
| RS876657400 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |