rs139171143
This variant is located in the CHRNE gene.
▶ClinVar annotation
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome; Inborn genetic diseases; not provided
View on ClinVar →About CHRNE
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]
View all CHRNE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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