GABRA1 Chromosome 5

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

Upload your DNA to see your personal genotypes for variants in GABRA1.

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
RS587777308 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 19, Inborn genetic diseases
RS747927213 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS751571034 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS75423500 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS756553428 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
RS757378039 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS76224028 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence 4, Idiopathic generalized epilepsy
RS762836110 Health Risk Conflicting classifications of pathogenicity —
RS766490931 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS769743354 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 19, Idiopathic generalized epilepsy
RS771316858 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS775344663 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
RS794727962 Health Risk Conflicting classifications of pathogenicity —
RS796052495 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS80337021 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS886060366 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized, susceptibility to
RS1060499553 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1064794681 Health Risk Likely pathogenic —
RS1064795805 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS1173578471 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1264701196 Health Risk Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS1429197938 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1554086436 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1581207094 Health Risk Likely pathogenic Epilepsy, childhood absence 4, idiopathic generalized
RS1581220163 Health Risk Likely pathogenic Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
RS1755061747 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1755334003 Health Risk Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy, 19
RS2113293570 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
RS2113307162 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS2532204989 Health Risk Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2532239106 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS2532239437 Health Risk Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2532261654 Health Risk Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS2532261903 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS2532292328 Health Risk Likely pathogenic —
RS2532292404 Health Risk Likely pathogenic —
RS796052488 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS796052492 Health Risk Likely pathogenic Epilepsy, idiopathic generalized, susceptibility to
RS796052494 Health Risk Likely pathogenic —
RS796052496 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19, Idiopathic generalized epilepsy
RS796052497 Health Risk Likely pathogenic —
RS1064793933 Health Risk Pathogenic —
RS1131691884 Health Risk Pathogenic —
RS1561584736 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1755063970 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS1755330256 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, childhood absence 4
RS1755338662 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1755339912 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19, Developmental and epileptic encephalopathy
RS1755341108 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy, idiopathic generalized
RS2113380903 Health Risk Pathogenic Epilepsy, idiopathic generalized, susceptibility to
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