SPINK1 - Gene browser

SPINK1

serine peptidase inhibitor Kazal type 1

HCNC Approved Symbol: SPINK1 (HGNC:11244)
Genomic Coordinates: 5:147,824,582 - 147,839,196 (5q32)
Synonyms: Spink3, PCTT, PSTI, TATI
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the SPINK1 gene.

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

011
Patient count

Chronic pancreatitis: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Recurrent pancreatitis: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Pancreatitis: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Acute pancreatitis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Abdominal pain: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)