CHRNE Chromosome 17
Cholinergic receptor nicotinic epsilon subunit
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What This Gene Does
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000108556
Associated Conditions (18)
Congenital myasthenic syndrome 4A
Congenital myasthenic syndrome
CHRNE-related disorder
Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 4B
Tip-toe gait
Inborn genetic diseases
Distal myopathy
Abnormality of the musculature
Familial cancer of breast
Myasthenic syndrome
congenital
1B
fast-channel
Neurodevelopmental delay
Multifocal seizures
Slow-Channel Congenital Myasthenia Syndrome
Congenital myasthenic syndrome 4
Key Variants
RS1168592296
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, CHRNE-related disorder
Health Risk
RS121909516
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
Health Risk
RS1226276974
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
Health Risk
RS1226552673
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, Inborn genetic diseases
Health Risk
RS139171143
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, Inborn genetic diseases
Health Risk
RS139625105
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
Health Risk
RS1396286715
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
Health Risk
RS139922367
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4A, Inborn genetic diseases, Congenital myasthenic syndrome 4A
Health Risk
RS140023380
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Tip-toe gait
Health Risk
RS140042356
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
Health Risk
RS141183965
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4A, Inborn genetic diseases, Distal myopathy
Health Risk
RS144169073
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome
Health Risk
All Variants (270)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS56377005 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS755303686 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A |
| RS756675414 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B |
| RS758687208 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, CHRNE-related disorder |
| RS760022829 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome |
| RS760623071 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS768869197 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS769945146 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4C |
| RS771486772 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B |
| RS773553639 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A |
| RS773929089 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B |
| RS776927709 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Abnormality of the musculature |
| RS779816027 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS786204773 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C |
| RS879255562 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome |
| RS886037628 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B |
| RS886043239 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS918839874 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, CHRNE-related disorder, Congenital myasthenic syndrome 4A |
| RS932032926 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, CHRNE-related disorder |
| RS977512223 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A |