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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.

Frequently observed phenotypes

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

Chronic pancreatitis
 5 (45.5%)
Recurrent pancreatitis
 4 (36.4%)
Pancreatitis
 3 (27.3%)
Acute pancreatitis
 2 (18.2%)
Abdominal pain
 2 (18.2%)
SPINK1 - Gene browser | 3billion