login thr777 - An Overview
login thr777 - An Overview
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the outcome of sequence improvements on RNA splicing recommend this variant may perhaps build or improve a splice internet site. In summary, the offered evidence is now insufficient to determine the purpose of this variant in disease. Thus, it has been categorised being a Variant of Uncertain Importance. (significantly less)
So this date could be diverse through the date of the “newest submission” described at the highest of this web site. Assistance Observe NCBI
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The global insignificant allele frequency calculated from the one thousand Genomes Challenge. The small allele at this site is indicated in parentheses and will be different within the allele represented by this VCV report.
This column consists of more information supporting the classification, including citations, the touch upon classification, and specific evidence supplied as observations of your variant because of the submitter.
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This sequence transform has an effect on codon 777 of your GAA mRNA. It's really a 'silent' improve, this means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, that is A part of the consensus splice website for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been described while in the literature in persons influenced with GAA-relevant problems.
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