The sequence variant c.2165+1G>A is located in the donor splice site of intron 17 and interferes with the splicing process. In fibroblasts, the variant causes alternative splicing where either exon 17 is deleted from the transcript (r.2047_2165del119), or where the last 24 nucleotides of exon 17 are deleted (r.2142_2165del24). Both events result in truncated, non-functional proteins (p.Thr683ArgfsX12; p.Trp714Cys_Ser715Gly722del8). |
|