POLR3A - Gene browser

POLR3A

RNA polymerase III subunit A

HCNC Approved Symbol: POLR3A (HGNC:30074)
Genomic Coordinates: 10:77,975,149 - 78,029,515 (10q22.3)
Synonyms: RPC1, RPC155, hRPC155, C160
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

27Patients

In total, 27 patients were diagnosed with a variant in the POLR3A gene.

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

027
Patient count

Hypotonia: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Global developmental delay: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Developmental delay: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)
Short stature: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)
Nystagmus: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)