rs2525686758

This variant is located in the ALG14 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter3 publications

Congenital myasthenic syndrome 15

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About ALG14

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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