CAV3 - Gene browser

CAV3

caveolin 3

HCNC Approved Symbol: CAV3 (HGNC:1529)
Genomic Coordinates: 3:8,733,802 - 8,746,758 (3p25.3)
Synonyms: VIP-21, LGMD1C, VIP21, LQT9
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the CAV3 gene.

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

07
Patient count

Calf muscle pseudohypertrophy: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Elevated serum creatine kinase: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Elevated creatine kinase: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Tip-toe gait: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Autism spectrum disorder: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)