rs763832290

This variant is located in the UBAP2L gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Global developmental delay; Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

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About UBAP2L

Enables RNA binding activity. Involved in binding activity of sperm to zona pellucida; positive regulation of stress granule assembly; and stress granule assembly. Acts upstream of or within hematopoietic stem cell homeostasis. Part of PcG protein complex. [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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