POLR1C - Gene browser

POLR1C

RNA polymerase I and III subunit C

HCNC Approved Symbol: POLR1C (HGNC:20194)
Genomic Coordinates: 6:43,517,089 - 44,461,400 (6p21.1)
Synonyms: RPA40, RPA39, RPA5, RPAC1, AC40, RPC40
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the POLR1C gene.

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

01
Patient count

Abnormal globus pallidus morphology: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Abnormal myelination: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Brain hypomyelination: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)