GABRB1 Chromosome 4
Gamma-aminobutyric acid type A receptor subunit beta1
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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 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
4p12
Ensembl
ENSG00000163288
Associated Conditions (3)
Developmental and epileptic encephalopathy
45
GABRB1-related disorder
Key Variants
RS2110051822
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 45, GABRB1-related disorder
Health Risk
RS2475468418
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy
Health Risk
RS377538048
Conflicting classifications of pathogenicity
Health Risk
RS780621488
Conflicting classifications of pathogenicity
Health Risk
RS1135401786
Likely pathogenic
Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy
Health Risk
RS1728474004
Likely pathogenic
Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy
Health Risk
RS1728584859
Likely pathogenic
Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy
Health Risk
RS886039818
Likely pathogenic
Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy
Health Risk
RS886039817
Pathogenic
Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2110051822 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 45, GABRB1-related disorder |
| RS2475468418 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy |
| RS377538048 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780621488 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1135401786 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy |
| RS1728474004 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy |
| RS1728584859 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy |
| RS886039818 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy |
| RS886039817 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 45, Developmental and epileptic encephalopathy |