rs551423795

This is a variant in the MUSK gene that changes a asparagine to an serine.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters4 publications

Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1 (FADS1)

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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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