COL6A3
Gene name: collagen, type VI, alpha 3OMIM ID: 120250
Chromosome location: 2q37.3
Mutations
| Disease/Phenotype | Ullrich congenital muscular dystrophy 1 |
|---|---|
| DNA Change | IVS29+5G>A |
| A.A. Change | in-frame deletion of 17 amino acids |
| Exon/Intron | intron 29 |
| Mutation Type | substitution |
| Reference | Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002 Jun;70(6):1446-58. |
Variant not named according to HGVS recommendations