G6PC1 - Gene browser

G6PC1

glucose-6-phosphatase catalytic subunit 1

HCNC Approved Symbol: G6PC1 (HGNC:4056)
Genomic Coordinates: 17:42,900,799 - 42,914,438 (17q21.31)
Synonyms: GSD1a, G6PT, G6PC
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

22Patients

In total, 22 patients were diagnosed with a variant in the G6PC1 gene.

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

022
Patient count

Hepatomegaly: 9 (40.9%)
Patient Count: 9 (40.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (40.9%)
Hypertriglyceridemia: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Hepatosplenomegaly: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Short stature: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)
Metabolic acidosis: 3 (13.6%)
Patient Count: 3 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.6%)