thr777 Options
thr777 Options
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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 reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the influence of sequence modifications on RNA splicing advise that this variant may possibly create or improve a splice web site. In summary, the out there proof is now inadequate to find out the position of the variant in ailment. As a result, it has been classified to be a Variant of Unsure Significance.
This value is calculated by NCBI based on details from submitters. Examine our policies for calculating the evaluation position. The amount of submissions which lead to this evaluation standing is shown in parentheses.
There's no practical evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider publishing that details to ClinVar.
This column contains more information supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations of the variant via the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you think about submitting that information to ClinVar.
The volume of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
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Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that forecast their utilization.
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The amount of variants in ClinVar for this gene, together with more compact variants throughout thr777 the gene and larger CNVs that overlap or thoroughly include the gene.
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