Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CHRNB1 Cholinergic receptor, nicotinic, beta 1 muscle       | 17p13.1 | * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B (11.2, 11.6, 11.9)* Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.6, 11.9)* Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.6, 11.9)* Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A (11.2, 11.6, 11.9) |