SERPING1 - Gene browser

SERPING1

serpin family G member 1

HCNC Approved Symbol: SERPING1 (HGNC:1228)
Genomic Coordinates: 11:57,597,685 - 57,614,848 (11q12.1)
Synonyms: C1IN, C1-INH, HAE1, HAE2, C1INH, C1NH
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 SERPING1 gene.

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

03
Patient count

Angioedema: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Cushing syndrome: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hypothyroidism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Facial edema: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Focal segmental glomerulosclerosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)