GABRB2 Chromosome 5
Gamma-aminobutyric acid type A receptor subunit beta2
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What This Gene Does
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [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
ENSG00000145864
Associated Conditions (7)
Intellectual disability
See cases
Inborn genetic diseases
Developmental and epileptic encephalopathy 92
GABRB2-related epileptic encephalopathy
Seizure
Cerebral visual impairment and intellectual disability
Key Variants
RS1014388930
Conflicting classifications of pathogenicity
Intellectual disability, See cases, Intellectual disability
Health Risk
RS1021186046
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS1026621473
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1057521979
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1273884286
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1561658011
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1581004188
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1753822503
Conflicting classifications of pathogenicity
Intellectual disability, Developmental and epileptic encephalopathy 92, Intellectual disability
Health Risk
RS1753824440
Conflicting classifications of pathogenicity
Intellectual disability, Developmental and epileptic encephalopathy 92, Intellectual disability
Health Risk
RS1756503149
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
Health Risk
RS201397195
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS373324958
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 92, Intellectual disability, Developmental and epileptic encephalopathy 92
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1580984866 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1753822738 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92 |
| RS2113397640 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2113405030 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2479999946 | Health Risk | Pathogenic | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS606231468 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92 |
| RS886039374 | Health Risk | Pathogenic | — |
| RS1064794996 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy 92, Intellectual disability |
| RS1085307993 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92 |
| RS1131691875 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1554093884 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy 92, Intellectual disability |
| RS1554093891 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy 92, Seizure |
| RS886039375 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92 |