rs780277809
This variant is located in the ALG14 gene.
▶ClinVar annotation
not provided; Congenital myasthenic syndrome 15; Myopathy, epilepsy, and progressive cerebral atrophy; Inborn genetic diseases; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
View on ClinVar →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]
View all ALG14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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