CHRNB1 Chromosome 17
Cholinergic receptor nicotinic beta 1 subunit
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What This Gene Does
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000170175
Associated Conditions (9)
Congenital myasthenic syndrome 2A
Congenital myasthenic syndrome 4C
CHRNB1-related disorder
Inborn genetic diseases
Congenital myasthenic syndrome 2C
See cases
Thyroid cancer
nonmedullary
1
Key Variants
RS1064795835
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
Health Risk
RS117168441
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A, CHRNB1-related disorder
Health Risk
RS1173532574
Conflicting classifications of pathogenicity
CHRNB1-related disorder, Congenital myasthenic syndrome 2A, CHRNB1-related disorder
Health Risk
RS1239393228
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
Health Risk
RS138920330
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A, Inborn genetic diseases
Health Risk
RS143871421
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
Health Risk
RS147607553
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
Health Risk
RS148533702
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2C
Health Risk
RS150290595
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
Health Risk
RS199665345
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
Health Risk
RS200648690
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
Health Risk
RS200684767
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 2A, Inborn genetic diseases, Congenital myasthenic syndrome 2A
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2507872027 | Health Risk | Pathogenic | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS2507872174 | Health Risk | Pathogenic | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS886041490 | Health Risk | Pathogenic | — |
| RS1908992563 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS199875082 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS780391043 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |
| RS781689096 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A |