Not known Details About login thr777
Not known Details About login thr777
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This day signifies the last time this VCV file was updated. The update may be because of an update to on the list of incorporated submitted data (SCVs), or because of an update that ClinVar built for the variant which include including HGVS expressions or maybe a rs range.
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This column contains more information supporting the classification, such as citations, the comment on classification, and in depth proof provided as observations from the variant through the submitter.
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the impact of sequence alterations on RNA splicing advise this variant may well make or fortify a splice web page. In summary, the available proof is now inadequate to find out the position of this variant in condition. As a result, it has been categorised as a Variant of Unsure Importance. OK
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The global minimal allele frequency calculated with the a thousand Genomes Project. The minor allele at this area is indicated in parentheses and should be unique from the allele represented by this VCV record.
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