CAPN3 - Gene browser

CAPN3

calpain 3

HCNC Approved Symbol: CAPN3 (HGNC:1480)
Genomic Coordinates: 15:42,359,501 - 42,412,317 (15q15.1)
Synonyms: CANP3, p94, nCL-1, LGMD2, LGMD2A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

61Patients

In total, 61 patients were diagnosed with a variant in the CAPN3 gene.

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

061
Patient count

Elevated creatine kinase: 16 (26.2%)
Patient Count: 16 (26.2%)
% of total patients presenting each phenotype is shown in parentheses.
16 (26.2%)
Elevated serum creatine kinase: 13 (21.3%)
Patient Count: 13 (21.3%)
% of total patients presenting each phenotype is shown in parentheses.
13 (21.3%)
Muscle weakness: 11 (18.0%)
Patient Count: 11 (18.0%)
% of total patients presenting each phenotype is shown in parentheses.
11 (18.0%)
Myopathy: 8 (13.1%)
Patient Count: 8 (13.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (13.1%)
Proximal muscle weakness: 7 (11.5%)
Patient Count: 7 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
7 (11.5%)