ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the effect of sequence changes on RNA splicing counsel this variant could produce or strengthen a splice website. In summary, the readily available evidence is presently inadequate to find out the role of the variant in condition. Consequently, it's been classified to be a Variant of Uncertain Importance. (considerably less)

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The number of variants in ClinVar that happen to be contained inside this gene, that has a hyperlink to watch the listing of variants.

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