PCSK9 - Gene browser

PCSK9

proprotein convertase subtilisin/kexin type 9

HCNC Approved Symbol: PCSK9 (HGNC:20001)
Genomic Coordinates: 1:55,039,548 - 55,064,852 (1p32.3)
Synonyms: NARC-1, FH3, HCHOLA3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the PCSK9 gene.

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

014
Patient count

Hyperlipidemia: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Atrial septal defect: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Left ventricular hypertrophy: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Hearing loss: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Azotemia: 1 (7.1%)
Patient Count: 1 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (7.1%)