rs2108464046

This variant is located in the EIF4A2 gene.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Neurodevelopmental delay; Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

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About EIF4A2

Enables ATP hydrolysis activity. Involved in negative regulation of RNA-dependent RNA polymerase activity. Located in perinuclear region of cytoplasm. Implicated in neurodevelopmental disorder with hypotonia and speech delay. [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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