rs886041063

This variant is located in the GPATCH4 gene.

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ClinVar annotation

Pathogenic

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

About GPATCH4

Enables RNA binding activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all GPATCH4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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