The smart Trick of link thr777 That No One is Discussing
The smart Trick of link thr777 That No One is Discussing
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Remark: This sequence improve has an effect on codon 777 with the GAA mRNA. It is a 'silent' transform, this means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, and that is Element of the consensus splice internet site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported within the literature in folks impacted with GAA-similar circumstances.
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The worldwide minor allele frequency calculated via the one thousand Genomes Venture. The insignificant allele at this area is indicated in parentheses and will be diverse from the allele represented by this VCV document.
This column involves more information supporting the classification, such as citations, the comment on classification, and specific evidence offered as observations with the variant by the submitter.
This column features more information supporting the classification, like citations, the touch upon classification, and detailed evidence presented as observations on the variant via the submitter.
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This worth is calculated by NCBI based on knowledge from submitters. Read our policies for calculating the evaluation standing. The volume of submissions which contribute to this overview position is shown in parentheses.