rs2083259164

This variant is located in the FZR1 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters1 publication

Seizure;Global developmental delay;Cerebellar ataxia;Autism;Hypotonia; Global developmental delay; Developmental and epileptic encephalopathy 109

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About FZR1

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [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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