The 2-Minute Rule for login thr777
The 2-Minute Rule for login thr777
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence improvements on RNA splicing propose this variant may possibly produce or fortify a splice internet site. In summary, the accessible evidence is now insufficient to find out the function of the variant in disease. Thus, it has been categorized to be a Variant of Uncertain Significance. (less)
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There isn't any useful evidence in ClinVar for this variation. If you have produced purposeful information for this variation, remember to consider publishing that info to ClinVar.
This column incorporates more details supporting the classification, such as citations, the comment on classification, and in-depth evidence delivered as observations on the variant by the submitter.
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The effect with the variant on RNA or protein perform, based upon experimental proof from submitters.
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This benefit is calculated by NCBI depending on details from submitters. Go login thr777 through our procedures for calculating the assessment position. The number of submissions which lead to this evaluate position is revealed in parentheses.