SPINT2 - Gene browser

SPINT2

serine peptidase inhibitor, Kunitz type 2

HCNC Approved Symbol: SPINT2 (HGNC:11247)
Genomic Coordinates: 19:38,264,573 - 38,292,615 (19q13.2)
Synonyms: Kop, HAI-2, HAI2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the SPINT2 gene.

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

01
Patient count

2-3 finger syndactyly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Chronic diarrhea: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypoglycemia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hyponatremia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Myelomeningocele: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)