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Stars signify the evaluate status, or the extent of evaluate supporting the submitted (SCV) file. This worth is calculated by NCBI dependant on info within the submitter.

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So this date might be different within the date from the “most recent submission” claimed at the best of the website page. Assist Comply with NCBI

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Aberrant five' splice sites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational tools that predict their utilization.

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03%). This variant hasn't been documented within the literature in people today impacted with GAA-connected conditions. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the outcome of sequence adjustments on RNA splicing counsel that this variant may possibly create or bolster a splice web page. In summary, the obtainable proof is currently insufficient to determine the purpose of the variant in disease. For that reason, it's been labeled as a Variant of Uncertain Significance. Okay