rs193100227

This variant is located in the LINGO1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About LINGO1

Predicted to enable epidermal growth factor receptor binding activity. Predicted to act upstream of or within negative regulation of oligodendrocyte differentiation; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and neuron development. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including extracellular space; glutamatergic synapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder 64 and glaucoma. [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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