rs200630944

This variant is located in the ARGLU1 gene.

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ClinVar annotation

Likely Benign

1 submitter

ARGLU1-related disorder

About ARGLU1

Enables pre-mRNA binding activity and transcription coactivator activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]

View all ARGLU1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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