Gene:
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all GABRA1 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs10068980 161287847G>A, 18651G>A, 188-4880G>A, 6099120G>A
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs1157122 161319314T>C, 50118T>C, 6130587T>C, 856+1258T>C
T > C
Intronic
No VIP available CA VA
rs2279020 1059+15G>A, 161322889G>A, 53693G>A, 6134162G>A
G > A
Intronic
No VIP available CA VA
rs2290732 *470A>G, 161324898A>G, 55702A>G, 6136171A>G
A > G
3' UTR
No VIP available No Clinical Annotations available VA
rs6883877 161278338C>T, 6089611C>T, 74+448C>T, 9142C>T
C > T
Intronic
No VIP available No Clinical Annotations available VA
rs6892782 161269783T>C, 587T>C, 6081056T>C
T > C
Not Available
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  GABA(A) receptor, alpha 1
Alternate Symbols:  EJM5
PharmGKB Accession Id: PA28489

Details

Cytogenetic Location: chr5 : q34 - q34
GP mRNA Boundary: chr5 : 161274197 - 161326965
GP Gene Boundary: chr5 : 161264197 - 161329965
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

External Pathways

Links to non-PharmGKB pathways.

  1. cardiac protection against ros - (BioCarta via Pathway Interaction Database)
  2. gamma-aminobutyric acid receptor life cycle pathway - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Epilepsy

Publications related to GABRA1: 11

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Gene-wide tagging study of the effects of common genetic polymorphisms in the alpha subunits of the GABAA receptor on epilepsy treatment response. Pharmacogenomics. 2013. Hung Chin-Chuan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. Pharmacogenetics and genomics. 2013. Balan Shabeesh, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up. CNS neuroscience & therapeutics. 2012. Zhou Bo-Ting, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population. Indian journal of human genetics. 2011. Kumari Ritu, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gamma-amino butyric acid type A receptor mutations at beta2N265 alter etomidate efficacy while preserving basal and agonist-dependent activity. Anesthesiology. 2009. Desai Rooma, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The benzodiazepine site of the GABAA receptor: an old target with new potential?. Sleep medicine. 2004. Bateson Alan N. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mapping of the benzodiazepine recognition site on GABA(A) receptors. Current topics in medicinal chemistry. 2002. Sigel Erwin. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
New insights into the role of the GABA(A)-benzodiazepine receptor in psychiatric disorder. The British journal of psychiatry : the journal of mental science. 2001. Nutt D J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The benzodiazepine binding site of GABAA receptors. Trends in pharmacological sciences. 1997. Sigel E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The pharmacology of neurosteroidogenesis. The Journal of steroid biochemistry and molecular biology. 1994. Costa E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cloning and expression of cDNA for human diazepam binding inhibitor, a natural ligand of an allosteric regulatory site of the gamma-aminobutyric acid type A receptor. Proceedings of the National Academy of Sciences of the United States of America. 1986. Gray P W, et al. PubMed