CHRNB2 Chromosome 1
Cholinergic receptor nicotinic beta 2 subunit
Upload your DNA to see your personal genotypes for variants in CHRNB2.
What This Gene Does
Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000160716
Associated Conditions (9)
Autosomal dominant nocturnal frontal lobe epilepsy
Inborn genetic diseases
Intellectual disability
Autosomal dominant nocturnal frontal lobe epilepsy 3
CHRNB2-related disorder
Microcephaly
Deeply set eye
Seizure
Autosomal dominant nocturnal frontal lobe epilepsy 1
Key Variants
RS1057520852
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1286192889
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS141735618
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Intellectual disability, Autosomal dominant nocturnal frontal lobe epilepsy 3
Health Risk
RS144813907
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, CHRNB2-related disorder
Health Risk
RS145893879
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1475853887
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1557852162
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS190374968
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS199658508
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
Health Risk
RS199885651
Conflicting classifications of pathogenicity
Microcephaly, Deeply set eye, Seizure
Health Risk
RS199928622
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS199999862
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057520852 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1286192889 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS141735618 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Intellectual disability, Autosomal dominant nocturnal frontal lobe epilepsy 3 |
| RS144813907 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, CHRNB2-related disorder |
| RS145893879 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1475853887 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1557852162 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS190374968 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS199658508 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS199885651 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Deeply set eye, Seizure |
| RS199928622 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS199999862 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS201004255 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS202079239 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS372273025 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS373054422 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS55685423 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS746480833 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS751272610 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS752968150 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS753731408 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS757023317 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS767243629 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS767533378 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, CHRNB2-related disorder |
| RS770055798 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS77710036 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS780175030 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS796052329 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 3, Inborn genetic diseases |
| RS932622161 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1696167453 | Health Risk | Likely pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy 3 |
| RS2526365241 | Health Risk | Likely pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy 3 |
| RS281865070 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS74315291 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy |