omia.variant:1744

Genomic description: NC_049260.1:g.27027497_27,036112dup8616

Coding DNA description: NM_001003343.1:c.7528-4048_7645+4450dup

Protein description: NP_001003343.1:p.(I2549Sfs*3)

Gene: DMD

Phenes where this variant occurs: