SLC32A1 Chromosome 20
Solute carrier family 32 member 1
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What This Gene Does
The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 32
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000101438
Associated Conditions (5)
Intellectual disability
Seizure
Developmental and epileptic encephalopathy 114
Generalized epilepsy with febrile seizures plus
type 12
Key Variants
RS2145649990
Conflicting classifications of pathogenicity
Intellectual disability, Seizure, Developmental and epileptic encephalopathy 114
Health Risk
RS2145650130
Likely pathogenic
Intellectual disability, Seizure, Developmental and epileptic encephalopathy 114
Health Risk
RS2145650002
Pathogenic
Seizure, Intellectual disability, Developmental and epileptic encephalopathy 114
Health Risk
RS2084284179
Pathogenic/Likely pathogenic
Generalized epilepsy with febrile seizures plus, type 12, Generalized epilepsy with febrile seizures plus
Health Risk
RS2084286998
Pathogenic/Likely pathogenic
Generalized epilepsy with febrile seizures plus, type 12, Generalized epilepsy with febrile seizures plus
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145649990 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Seizure, Developmental and epileptic encephalopathy 114 |
| RS2145650130 | Health Risk | Likely pathogenic | Intellectual disability, Seizure, Developmental and epileptic encephalopathy 114 |
| RS2145650002 | Health Risk | Pathogenic | Seizure, Intellectual disability, Developmental and epileptic encephalopathy 114 |
| RS2084284179 | Health Risk | Pathogenic/Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 12, Generalized epilepsy with febrile seizures plus |
| RS2084286998 | Health Risk | Pathogenic/Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 12, Generalized epilepsy with febrile seizures plus |