POLR3B - Gene browser

POLR3B

RNA polymerase III subunit B

HCNC Approved Symbol: POLR3B (HGNC:30348)
Genomic Coordinates: 12:106,357,748 - 106,510,198 (12q23.3)
Synonyms: RPC2, FLJ10388, C128
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the POLR3B gene.

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

08
Patient count

Ataxia: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Developmental regression: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Intellectual delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Speech and language delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Abnormal corpus callosum morphology: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)