Everything about thr777
Everything about thr777
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The number of variants in ClinVar which can be contained within just this gene, which has a link to see the list of variants.
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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 widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence variations on RNA splicing recommend this variant could create or improve a splice website. In summary, the out there evidence is now insufficient to ascertain the function of this variant in disorder. As a result, it's been classified being a Variant of Unsure Significance. (considerably less)
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Stars depict the aggregate evaluate status, or the extent of evaluation supporting the combination germline classification for this VCV document.
Aberrant five' splice websites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational tools that predict their utilization.
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This day represents the last time this VCV record was updated. The update might be due to an update to one of many included submitted records (SCVs), or as a consequence of an update that ClinVar produced towards the variant for instance introducing HGVS expressions or a rs amount.
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