rs373957300

This is a variant in the BRF1 gene that changes a threonine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆

5 submitters2 publications

Cerebellar-facial-dental syndrome; Inborn genetic diseases

About BRF1

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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