POLA1 - Gene browser

POLA1

DNA polymerase alpha 1, catalytic subunit

HCNC Approved Symbol: POLA1 (HGNC:9173)
Genomic Coordinates: 23:24,693,918 - 24,996,986 (Xp22.11-p21.3)
Synonyms: p180, POLA, NSX
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the POLA1 gene.

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

03
Patient count

Short stature: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Encephalomalacia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Facial dysmorphism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hypercortisolism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hypoglycemia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)