GABRB3 Chromosome 15
Gamma-aminobutyric acid type A receptor subunit beta3
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What This Gene Does
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
15q12
Ensembl
ENSG00000166206
Associated Conditions (16)
Epilepsy
childhood absence
susceptibility to
5
1
Inborn genetic diseases
Developmental and epileptic encephalopathy
43
Insomnia
SUDDEN INFANT DEATH SYNDROME
Intellectual disability
See cases
GABRB3-related disorder
Epileptic encephalopathy
Neurodevelopmental delay
Seizure
Key Variants
RS1057519201
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1057523553
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1060502666
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1064794797
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS121913125
Conflicting classifications of pathogenicity
Insomnia, Epilepsy, childhood absence
Health Risk
RS121913126
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1555401442
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Epilepsy
Health Risk
RS1595440443
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1595445975
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 43, Intellectual disability
Health Risk
RS1889965563
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1892473626
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS201579427
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2504205459 | Health Risk | Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2504213280 | Health Risk | Likely pathogenic | — |
| RS2504213487 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS2504213556 | Health Risk | Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2504329220 | Health Risk | Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2504330272 | Health Risk | Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS78196007 | Health Risk | Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1060502665 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1131691481 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1555368345 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Epilepsy |
| RS1567106381 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1595440448 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1889959221 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1889964880 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1889966666 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1891185645 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1891196840 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1892476410 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS201004195 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS2140199019 | Health Risk | Pathogenic | — |
| RS2140536878 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2140536988 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2140537271 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2140737885 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2504153232 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2504153506 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS2504172140 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS72708067 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS746425161 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS867679278 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS886037939 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS886037940 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS886037941 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS942355738 | Health Risk | Pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1057519550 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Epilepsy, childhood absence |
| RS1057524415 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1555401425 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 43, Developmental and epileptic encephalopathy |
| RS1555401440 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Epilepsy, childhood absence |
| RS1889966043 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1889966424 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS1890229008 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS2504205415 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS767830097 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797045045 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, childhood absence, susceptibility to |
| RS886037938 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 43, Neurodevelopmental delay |