The sequence variant c.1420-3del25 is located in intron 11 and interferes with the splicing process. In fibroblasts, the variant causes alternative splicing where either exon 12 is deleted from the transcript (r.1420_1527del108), or where the last 66 nts of exon 12 are deleted (r.1420_1485del66). Both events result in truncated, non-functional proteins (p.Val474_Arg509del36; p.Val474_Gln495del22). |
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