rs782661984

This variant is located in the POLR3GL gene.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Oligodontia;Abnormal facial shape;Short stature;Hyperostosis; POLR3GL-related disorder; Short stature, oligodontia, dysmorphic facies, and motor delay

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About POLR3GL

Predicted to enable chromatin binding activity. Involved in transcription by RNA polymerase III. Located in nucleus. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Jul 2025]

View all POLR3GL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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