The link thr777 Diaries
The link thr777 Diaries
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Comment: This sequence modify affects codon 777 of the GAA mRNA. It's really a 'silent' alter, indicating that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is part of the consensus splice web page for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed while in the literature in individuals impacted with GAA-relevant conditions.
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The global insignificant allele frequency calculated with the a thousand Genomes Venture. The minimal allele at this area is indicated in parentheses and could be diverse within the allele represented by this VCV record.
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There won't be any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you think about publishing that facts to ClinVar.
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