thr777 No Further a Mystery

thr777 No Further a Mystery

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ClinVar is made up of 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 formulated to forecast the effect of sequence alterations on RNA splicing counsel this variant may perhaps produce or reinforce a splice web site. In summary, the available evidence is at present insufficient to ascertain the role of the variant in disease. Consequently, it's been labeled being a Variant of Uncertain Importance.

This worth is calculated by NCBI based upon info from submitters. Read through our procedures for calculating the critique position. The quantity of submissions which contribute to this critique status is shown in parentheses.

This date represents the last time this VCV report was current. The update might be as a result of an update to one of many included submitted records (SCVs), or as a result of an update that ClinVar built into the variant for instance incorporating HGVS expressions or simply a rs quantity.

This column incorporates more details supporting the classification, which includes citations, the comment on classification, and specific evidence furnished as observations in the variant via the submitter.

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There aren't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to consider publishing that info to ClinVar.

The submitting Group for this submitted (SCV) file. This column also features the SCV accession and Model number, the day this SCV very first appeared in ClinVar, as well as date this SCV was very last current in ClinVar.

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Aberrant five' splice web sites in human illness genes: mutation pattern, nucleotide framework and comparison of computational tools that predict their utilization.

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Stars symbolize the overview status, or the extent of critique supporting the submitted (SCV) report. This worth is thr777 calculated by NCBI based upon data through the submitter.