Disease phenotype
OMIM
Gene symbol (chromosome)
protein
protein
COL6A1 (21q22.3)
alpha 1 type VI collagen
COL6A3 (2q37)
alpha 3 type VI collagen
COL6A2 (21q22.3)
alpha 2 type VI collagen
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Ullrich congenital muscular dystrophy | COL6A1 (21q22.3) alpha 1 type VI collagen
| |
| Ullrich congenital muscular dystrophy | COL6A3 (2q37) alpha 3 type VI collagen
| |
| Ullrich scleroatonic muscular dystrophy | COL6A2 (21q22.3) alpha 2 type VI collagen
|