rs781502273

This variant is located in the FRMD7 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

not provided; Nystagmus 1, congenital, X-linked

About FRMD7

Predicted to be involved in regulation of neuron projection development. Predicted to act upstream of or within negative regulation of stress fiber assembly; positive regulation of lamellipodium assembly; and positive regulation of small GTPase mediated signal transduction. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in congenital nystagmus 1. [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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