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The affliction with the classification, provided by the submitter for this submitted (SCV) report. This column also includes the affected status and allele origin of individuals observed with this variant.

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Aberrant 5' splice web-sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.

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03%). This variant hasn't been described within the literature in individuals afflicted slot thr777 with GAA-relevant situations. ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the influence of sequence alterations on RNA splicing suggest this variant might build or bolster a splice site. In summary, the readily available proof is at the moment inadequate to determine the job of this variant in disorder. As a result, it's been classified being a Variant of Unsure Significance. Okay

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These citations are identified by LitVar utilizing the rs number, so they may involve citations for multiple variant at this place. Make sure you evaluate the LitVar success carefully for your personal variant of fascination. File final updated May perhaps 12, 2024 

Stars characterize the overview standing, or the extent of evaluation supporting the submitted (SCV) history. This price is calculated by NCBI determined by information from the submitter.

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