PRIMPOL - Gene browser | 3billion

PRIMPOL

PRIMPOL

primase and DNA directed polymerase

HCNC Approved Symbol: PRIMPOL (HGNC:26575)
Genomic Coordinates: 4:184,649,738 - 184,694,952 (4q35.1)
Synonyms: FLJ33167, CCDC111
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

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

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Blindness: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Progressive hearing loss: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

PRIMPOL - Gene browser | 3billion