GABRA1 Chromosome 5

Gamma-aminobutyric acid type A receptor subunit alpha1
127 variants 127 Health Risk

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What This Gene Does
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
5q34
Ensembl
ENSG00000022355
Associated Conditions (14)
Epilepsy
idiopathic generalized
susceptibility to
13
childhood absence 4
Idiopathic generalized epilepsy
Developmental and epileptic encephalopathy
19
GABRA1-related disorder
Inborn genetic diseases
Intellectual disability
Epileptic encephalopathy
Juvenile myoclonic epilepsy
Intractable seizure
Key Variants
RS1064795283
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS1064796448
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS113886269
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS1312078830
Conflicting classifications of pathogenicity
GABRA1-related disorder, Inborn genetic diseases, GABRA1-related disorder
Health Risk
RS1313965409
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
Health Risk
RS138259457
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS138671319
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS139163545
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
Health Risk
RS139793542
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS142385746
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS143815396
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS144727170
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
All Variants (127)
RSID Category Clinical Significance Conditions
RS2113389254 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2113446442 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
RS2113446665 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2113464322 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
RS2113464798 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS2532239421 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS2532261315 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS2532280566 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2532280628 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Idiopathic generalized epilepsy
RS2532292255 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2532295501 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS587777307 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Idiopathic generalized epilepsy
RS587777309 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS763403354 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS796052491 Health Risk Pathogenic Epilepsy, childhood absence 4, Idiopathic generalized epilepsy
RS796052493 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS863225292 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS879253748 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1376907797 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 19, Idiopathic generalized epilepsy
RS1561587715 Health Risk Pathogenic/Likely pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS189199636 Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS727503940 Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS886039373 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 19, Epilepsy
RS121434579 Health Risk risk factor Epilepsy, idiopathic generalized, susceptibility to
RS1581220270 Health Risk risk factor Epilepsy, childhood absence 4, Epilepsy
RS587777363 Health Risk risk factor Epilepsy, idiopathic generalized, susceptibility to
RS587777364 Health Risk risk factor Epilepsy, idiopathic generalized, susceptibility to
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