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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence adjustments on RNA splicing advise that this variant may well generate or improve a spl

ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the outcome of sequence changes on RNA splicing counsel that this variant may well create or improve a splice site. In