rs779232987

This is a variant in the LGI4 gene that changes a alanine to an threonine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

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About LGI4

Involved in regulation of myelination. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in arthrogryposis multiplex congenita-1 and childhood absence epilepsy. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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