BRF1 - Gene browser

BRF1

BRF1 RNA polymerase III transcription initiation factor subunit

HCNC Approved Symbol: BRF1 (HGNC:11551)
Genomic Coordinates: 14:105,209,286 - 105,315,589 (14q32.33)
Synonyms: TFIIIB90, BRF, hBRF, TAF3B2, TAF3C, GTF3B
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the BRF1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count

Cryptorchidism: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Mental retardation: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Microcephaly: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Congenital hypoparathyroidism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Flattened head of long bone of foot: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)