rs797044480

This is a stop gained variant in the CHRND gene.

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ClinVar annotation

Pathogenic

Myasthenic syndrome, congenital, 1B, fast-channel

About CHRND

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

View all CHRND variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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