5 Tips about slot thr777 You Can Use Today
5 Tips about slot thr777 You Can Use Today
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Remark: This sequence improve has an effect on codon 777 from the GAA mRNA. It's really a 'silent' transform, meaning that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Component of the consensus splice web site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed from the literature in persons affected with GAA-relevant conditions.
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Go through our procedures for calculating the critique position. This column also features a link to the submitter’s assertion conditions if furnished, and the collection strategy.
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Stars depict the aggregate critique standing, or the level of overview supporting the aggregate germline classification for this VCV report.
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Stars stand for the assessment position, or the level of overview supporting the submitted (SCV) history. This benefit is calculated by NCBI determined by info within the submitter.
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There isn't any citations for germline classification of this variant in ClinVar. If you know of citations for this variation, be sure to look at distributing that details to ClinVar.
The global slight allele frequency calculated via the 1000 Genomes Venture. The minor allele at this locale is indicated in parentheses and will be various in the allele represented by this VCV record.
This benefit is calculated by NCBI depending on knowledge from submitters. Read our regulations for calculating the evaluation position. The number of submissions which contribute to this critique position is shown in parentheses.