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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the influence of sequence changes on RNA splicing recommend this variant may well create or strengthen a splice web-site. In summary, the obtainable proof is at this time inadequate to ascertain the role of this variant in illness. As a result, it has been labeled to be a Variant of Uncertain Significance. Alright

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The quantity of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.

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Stars stand for the evaluate standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI determined by info in the submitter.

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