PCSK1 - Gene browser

PCSK1

proprotein convertase subtilisin/kexin type 1

HCNC Approved Symbol: PCSK1 (HGNC:8743)
Genomic Coordinates: 5:96,390,333 - 96,433,248 (5q15)
Synonyms: PC1, PC3, SPC3, PC1/3, NEC1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the PCSK1 gene.

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

02
Patient count

Abnormal absence of menstruation: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Central hypothyroidism: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Childhood-onset truncal obesity: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Chronic diarrhea: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Chronic kidney disease: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)