CHRNA1 Chromosome 2
Cholinergic receptor nicotinic alpha 1 subunit
Upload your DNA to see your personal genotypes for variants in CHRNA1.
What This Gene Does
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000138435
Associated Conditions (16)
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 1A
Congenital myasthenic syndrome
Inborn genetic diseases
Myasthenic syndrome
congenital
1B
fast-channel
Juvenile myoclonic epilepsy
CHRNA1-related disorder
Slow-Channel Congenital Myasthenia Syndrome
Non-immune hydrops fetalis
Congenital myopathy
Autism
Seizure
Centronuclear myopathy
Key Variants
RS1131691893
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 1A, Lethal multiple pterygium syndrome
Health Risk
RS137852798
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 1A, Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS137852803
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 1A, Inborn genetic diseases, Lethal multiple pterygium syndrome
Health Risk
RS140268343
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, Juvenile myoclonic epilepsy
Health Risk
RS141733086
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, CHRNA1-related disorder, Lethal multiple pterygium syndrome
Health Risk
RS143252724
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, CHRNA1-related disorder
Health Risk
RS144533405
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, CHRNA1-related disorder, Lethal multiple pterygium syndrome
Health Risk
RS146464862
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
RS146863119
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Inborn genetic diseases, Lethal multiple pterygium syndrome
Health Risk
RS146899588
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, CHRNA1-related disorder
Health Risk
RS147488907
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
Health Risk
RS149292107
Conflicting classifications of pathogenicity
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852806 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 1B |
| RS137852807 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 1B |
| RS137852808 | Health Risk | Pathogenic | Congenital myasthenic syndrome 1A, Congenital myasthenic syndrome 1A |
| RS1477401624 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 1B |
| RS1683929269 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1684009556 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1684052200 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS199470442 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2105350984 | Health Risk | Pathogenic | Myasthenic syndrome, congenital, 1B |
| RS2468895247 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS750329103 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS753250273 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS768863116 | Health Risk | Pathogenic | Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS1064793397 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 1A, Myasthenic syndrome |
| RS137852801 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 1A, Lethal multiple pterygium syndrome, Congenital myopathy |
| RS1476453955 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1574007436 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome, Lethal multiple pterygium syndrome, Congenital myasthenic syndrome |
| RS374391312 | Health Risk | Pathogenic/Likely pathogenic | Myasthenic syndrome, congenital, 1B |
| RS768407867 | Health Risk | Pathogenic/Likely pathogenic | Lethal multiple pterygium syndrome, Autism, Seizure |