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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence adjustments on RNA splicing propose this variant may possibly make or bolster a splice internet site. In summary, the offered evidence is currently insufficient to ascertain the position of the variant in condition. For that reason, it has been classified to be a Variant of Uncertain Significance. (a lot less)
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Aberrant 5' splice web-sites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational instruments that predict their utilization.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should take into consideration distributing that data to ClinVar.
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