POLD1 - Gene browser

POLD1

DNA polymerase delta 1, catalytic subunit

HCNC Approved Symbol: POLD1 (HGNC:9175)
Genomic Coordinates: 19:50,384,323 - 50,418,018 (19q13.3)
Synonyms: CDC2, POLD
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the POLD1 gene.

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

01
Patient count

Dry skin: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Elevated liver enzymes: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Facial dysmorphism: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Failure to thrive: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hearing impairment: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)