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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the outcome of sequence improvements on RNA splicing propose this variant may possibly produce or fortify a splice internet site. In summary, the obtainable proof is at the moment inadequate to ascertain the position of this variant in ailment. Consequently, it's been classified being a Variant of Unsure Significance. (fewer)
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These citations are discovered by LitVar using the rs range, so they may consist of citations for multiple variant at this place. Make sure you evaluation the LitVar outcomes very carefully on your variant of fascination. File previous up to date Might 12, 2024
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The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars stand for the critique status, or the extent of assessment supporting the submitted (SCV) record. This price is calculated by NCBI depending on data through the submitter.
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03%). This variant hasn't been documented within the literature in people today influenced with slot thr777 GAA-associated disorders. ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the outcome of sequence alterations on RNA splicing suggest that this variant may well produce or improve a splice website. In summary, the readily available proof is at present inadequate to ascertain the function of this variant in disorder. Consequently, it has been labeled to be a Variant of Uncertain Significance. OK