BRF1 Chromosome 14
BRF1 general transcription factor IIIB subunit
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What This Gene Does
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]
Gene Info
Gene Group
"General transcription factors|General transcription factor IIIB complex subunits"
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000185024
Associated Conditions (6)
6 conditions
Inborn genetic diseases
Cerebellar-facial-dental syndrome
BRF1-related disorder
Colorectal cancer
See cases
Key Variants
RS1343140353
Conflicting classifications of pathogenicity
6 conditions, Inborn genetic diseases, 6 conditions
Health Risk
RS142328073
Conflicting classifications of pathogenicity
Health Risk
RS373957300
Conflicting classifications of pathogenicity
Cerebellar-facial-dental syndrome, Inborn genetic diseases, Cerebellar-facial-dental syndrome
Health Risk
RS767304692
Conflicting classifications of pathogenicity
Cerebellar-facial-dental syndrome, Inborn genetic diseases, Cerebellar-facial-dental syndrome
Health Risk
RS770411283
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebellar-facial-dental syndrome, Inborn genetic diseases
Health Risk
RS1304024631
Likely pathogenic
BRF1-related disorder, BRF1-related disorder
Health Risk
RS202049411
Likely pathogenic
Colorectal cancer, Colorectal cancer
Health Risk
RS2056711749
Likely pathogenic
Health Risk
RS2141566255
Likely pathogenic
Cerebellar-facial-dental syndrome, Cerebellar-facial-dental syndrome
Health Risk
RS606231450
Likely pathogenic
Cerebellar-facial-dental syndrome, See cases, Cerebellar-facial-dental syndrome
Health Risk
RS778434804
Likely pathogenic
BRF1-related disorder, BRF1-related disorder
Health Risk
RS1178247951
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1343140353 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Inborn genetic diseases, 6 conditions |
| RS142328073 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373957300 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar-facial-dental syndrome, Inborn genetic diseases, Cerebellar-facial-dental syndrome |
| RS767304692 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar-facial-dental syndrome, Inborn genetic diseases, Cerebellar-facial-dental syndrome |
| RS770411283 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cerebellar-facial-dental syndrome, Inborn genetic diseases |
| RS1304024631 | Health Risk | Likely pathogenic | BRF1-related disorder, BRF1-related disorder |
| RS202049411 | Health Risk | Likely pathogenic | Colorectal cancer, Colorectal cancer |
| RS2056711749 | Health Risk | Likely pathogenic | — |
| RS2141566255 | Health Risk | Likely pathogenic | Cerebellar-facial-dental syndrome, Cerebellar-facial-dental syndrome |
| RS606231450 | Health Risk | Likely pathogenic | Cerebellar-facial-dental syndrome, See cases, Cerebellar-facial-dental syndrome |
| RS778434804 | Health Risk | Likely pathogenic | BRF1-related disorder, BRF1-related disorder |
| RS1178247951 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2543306507 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS370270828 | Health Risk | Pathogenic | Cerebellar-facial-dental syndrome, Cerebellar-facial-dental syndrome |
| RS747435524 | Health Risk | Pathogenic | See cases, See cases |
| RS606231416 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar-facial-dental syndrome, Inborn genetic diseases, Cerebellar-facial-dental syndrome |