Everything about login thr777
Everything about login thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence alterations on RNA splicing propose this variant could develop or reinforce a splice web-site. In summary, the obtainable evidence is presently inadequate to ascertain the part of this variant in sickness. For that reason, it has been categorized like a Variant of Uncertain Importance. (fewer)
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This sequence change affects codon 777 on the GAA mRNA. This is a 'silent' transform, which means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Section of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in folks afflicted with GAA-associated disorders.
This column involves more information supporting the classification, such as citations, the touch upon classification, and in-depth proof provided as observations with the variant because of the submitter.
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