CAPN5 - Gene browser | 3billion

CAPN5

CAPN5

calpain 5

HCNC Approved Symbol: CAPN5 (HGNC:1482)
Genomic Coordinates: 11:77,066,971 - 77,126,155 (11q13.5)
Synonyms: nCL-3, HTRA3, ADNIV, VRNI
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the CAPN5 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Glaucoma: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Optic atrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

CAPN5 - Gene browser | 3billion