rs2105629680

This variant is located in the LNPK gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum

About LNPK

Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. [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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