rs775587809

This variant is located in the MUSK gene.

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ClinVar annotation

Likely Pathogenic★★★☆
2 submitters4 publications

Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 9; MUSK-related disorder

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About MUSK

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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