ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence modifications on RNA splicing suggest this variant could develop or bolster a splice website. In summary, the available proof is at present insufficient to find out the part of the variant in ailment. As a result, it has been classified for a Variant of Uncertain Importance. (significantly less)
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Aberrant five' splice web sites in human condition genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
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There is absolutely no useful proof in ClinVar for this variation. When you have produced purposeful details for this variation, make sure you think about submitting that details to ClinVar.
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These citations are determined by LitVar using the rs quantity, so they may contain citations for more than one variant at this area. Remember to overview the LitVar effects thoroughly for your personal variant of desire. Report very last up-to-date May possibly 19, 2024
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So this date may very well be various within the date of the “most up-to-date submission” noted at the top of the website page. Assist Abide by NCBI
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