Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
COL6A3
Alpha 3 type VI collagen




2q37
* Bethlem myopathy - (1.19, 1.48, 2.4, 2.8)
* LGMDD5 - (1.19, 1.48, 2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD1 (1.19, 1.48, 2.4, 2.8)
* LGMDR22 - (1.19, 1.48, 2.4, 2.8)