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Gene entry

GABRA1

gamma-aminobutyric acid type A receptor subunit alpha1

Chromosome
5
Cytoband
5q34
Variants (rsID)
27

GABRA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q34). Its official name is “gamma-aminobutyric acid type A receptor subunit alpha1”. The reference table lists 27 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs2279020Benignsingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 13|Developmental and epileptic encephalopathy, 19|Epilepsy, idiopathic generalized, susceptibility to, 13|Idiopathic generalized epilepsy|Epilepsy, childhood absence 4
  • rs4608967Benignsingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 13
  • rs142385746Conflicting interpretationssingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 13|Seizure|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13
  • rs144727170Conflicting interpretationssingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy
  • rs200750234Conflicting interpretationssingle nucleotide variantSeizure|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, idiopathic generalized, susceptibility to, 13
  • rs374616425Conflicting interpretationssingle nucleotide variantIdiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4
  • rs375475234Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy
  • rs41308303Conflicting interpretationssingle nucleotide variantSeizure|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, idiopathic generalized, susceptibility to, 13
  • rs551045474Conflicting interpretationssingle nucleotide variantEpilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13
  • rs587777308Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 19|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13|Inborn genetic diseases|Seizure|Epilepsy, idiopathic generalized, susceptibility to, 13|Developmental and epileptic encephalopathy, 19
  • rs769743354Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 19|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy
  • rs794727962Conflicting interpretationssingle nucleotide variant
  • rs796052492Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 19|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13
  • rs886039373Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 19|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.